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.A26A

c.78C>A

Surrounding Variants

1 paper

NM_153717.3

p.P25S

c.73C>T

1 paper

NM_153717.3

p.L28P

c.83T>C

2 papers

NM_153717.3

p.L33_L34del2

c.97_101del6

1 paper

NM_153717.3

p.A36G

c.107C>G

1 paper

NM_153717.3

p.A37S

c.109G>T

1 paper

NM_153717.3

p.L40F

c.118C>T

2 papers

NM_153717.3

p.D11_A12delFs

c.33_34delCG

2 papers

NM_153717.3

p.L44delFs

c.130delC

2 papers

NM_153717.3

p.L44fs

c.130_131fs

1 paper

NM_153717.3

p.A6fs

c.16_17fs

1 paper

NM_153717.3

p.G5E

c.14G>A

1 paper

NM_153717.3

p.G4G

c.12C>T