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

1 paper

NM_153717.3

p.R52fs

c.154_155fs

Surrounding Variants

1 paper

NM_153717.3

p.G51S

c.151G>A

1 paper

NM_153717.3

p.R54insFs

c.161_162insG

1 paper

NM_153717.3

p.T55_Q58delFs

c.164_174del11

5 papers

NM_153717.3

p.Q58_K59Splc

c.174+1G>A

2 papers

NM_153717.3

p.L44fs

c.130_131fs

2 papers

NM_153717.3

p.L44delFs

c.130delC

1 paper

NM_153717.3

p.L40F

c.118C>T

1 paper

NM_153717.3

p.A37S

c.109G>T

1 paper

NM_153717.3

p.A36G

c.107C>G

2 papers

NM_153717.3

p.L33_L34del2

c.97_101del6

1 paper

NM_153717.3

p.L28P

c.83T>C

1 paper

NM_153717.3

p.A26A

c.78C>A