| Type | Description |
|---|---|
| Definition | EvC ciliary complex subunit 1 |
| Date | Results | Publications |
|---|---|---|
| 2018-08-04 11:30:00 | the whole exome sequencing (WES) in this family revealed two homozygous variants in EVC2 (c.30dupC; p.Thr11Hisfs*45) and TMC1 (c.1696-1G>A) genes. In family B, WES revealed novel compound heterozygous variants (p.Ser307Pro, c.2894+3A>G) in the EVC gene. | 29321360 |
| 2018-08-04 10:47:00 | The molecular mechanism underlying the development of ventricular septal defect induced by the EVC c.343C>G mutation may be due to a reduction in the anti-apoptotic and proliferative abilities of cardiomyocytes via downregulation of Hh pathway activity. | 29257216 |
| 2018-01-13 13:57:00 | Here, we report on two Mexican families with patients diagnosed with Ellis-van Creveld syndrome. In all cases, molecular analysis by Sanger sequencing identified the same homozygous mutation in exon 12 of EVC, c.1678G>T, which leads to a premature stop codon. | 29229899 |
| 2017-02-18 12:28:00 | we detected two novel nonsense mutations and a partial deletion of EVC/EVC2 in two Vietnamese families with EvC. Moreover, we found in one family a missense mutation of EFCAB7, a possible modifier gene in EvC and its related disorders. | 26748586 |
| 2016-10-01 10:29:00 | sequence analysis identified a novel nonsense mutation (p.Trp234*) in exon 8 of the EVC2 gene and 15 bp duplication in exon 14 of the EVC gene in the two families. | 26580685 |
| Type | IDs |
|---|---|
| Synonymous | DWF-1, EVC1, EVCL |
| Gene |
UniProtKB-ID:
EVC_HUMAN,
Q5U3C2_HUMAN,
E9PCN4_HUMAN
UniprotKB:
P57679,
Q5U3C2,
E9PCN4
UniParc:
UPI00004DF377,
UPI000012A2A5,
UPI0000456100
EMBL:
BC085608,
AC116613,
AF216184,
AF216185,
AF239742,
AC105915
Ensembl:
ENSG00000072840
KO:
hsa:2121
|
| Nucleutide sequences |
EMBL-CDS:
AAF37217.1,
AAF44682.1,
AAF37216.1,
AAH85608.1
Ensembl_TRS:
ENST00000264956,
ENST00000509451
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000264956,
ENSP00000426774
RefSeq:
NP_001293021.1,
XP_011511721.1,
NP_714928.1,
XP_016863372.1,
NP_001293019.1,
XP_006713928.1,
XP_006713929.1
|
| Others |
UniRef100:
UniRef100_Q5U3C2,
UniRef100_P57679,
UniRef100_E9PCN4
UniRef90:
UniRef90_P57679,
UniRef90_E9PCN4
UniRef50:
UniRef50_E9PCN4,
UniRef50_P57679
UniGene:
Hs.646899,
Hs.649902
CCDS:
CCDS3383.1
|
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|---|---|---|---|---|---|---|---|---|
| Refseq |
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