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

3 papers

NM_153717.3

p.D95G

c.284A>G

Surrounding Variants

1 paper

NM_153717.3

p.V99I

c.295G>A

1 paper

NM_153717.3

p.S83S

c.249A>G

1 paper

NM_153717.3

p.S81C

c.242C>G

7 papers

NM_153717.3

p.Q74P

c.221A>C

2 papers

NM_153717.3

p.N68delFs

c.203delA

1 paper

NM_153717.3

p.T62delFs

c.185_186delCT

1 paper

NM_153717.3

p.K59fs

c.175_176fs

2 papers

NM_153717.3

p.Q58_K59Splc

c.175-9G>A

5 papers

NM_153717.3

p.Q58_K59Splc

c.174+1G>A

1 paper

NM_153717.3

p.T55_Q58delFs

c.164_174del11

1 paper

NM_153717.3

p.R54insFs

c.161_162insG

1 paper

NM_153717.3

p.R52fs

c.154_155fs