Varaico: Literature-Extracted Genetic Variants

EVC

265 papers

RefSeq Summary

This gene encodes a protein containing a leucine zipper and a transmembrane domain. This gene has been implicated in both Ellis-van Creveld syndrome (EvC) and Weyers acrodental dysostosis. [provided b...

Pfam Domains

EVC_Naa 189–535UCSCEvC complex member EVC N-terminal domain

EVC_Naa 189–755UCSCEvC complex member EVC N-terminal domain

EVC_Caa 775–909UCSCEvC complex member EVC C-terminal domain

Gene Aliases

HGNC Name

EvC ciliary complex subunit 1

HGNC Alias Symbols

DWF-1; EVC1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

12 papers

NM_153717.3

p.R340*

c.1018C>T

Surrounding Variants

1 paper

NM_153717.3

p.R340_Q341delFs

c.1020_1021delAC

4 papers

NM_153717.3

p.L342L

c.1026G>C

1 paper

NM_153717.3

p.M344L

c.1030A>T

1 paper

NM_153717.3

p.M344K

c.1031T>A

1 paper

NM_153717.3

p.L346delFs

c.1036_1037delCT

1 paper

NM_153717.3

p.L346_E354del9

c.1036_1061del27

1 paper

NM_153717.3

p.L346L

c.1036C>T

2 papers

NM_153717.3

p.L328F

c.982C>T

1 paper

NM_153717.3

p.A352_A353insFs

c.1056_1059dup4

1 paper

NM_153717.3

p.F327L

c.981T>A

1 paper

NM_153717.3

p.F327L

c.981T>G

1 paper

NM_153717.3

p.F327L

c.979T>C