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

1–12 of 312 variants

16 papers

NM_153717.3

p.S307P

c.919T>C

15 papers

NM_153717.3

p.E629Splc

c.1886+5G>T

12 papers

NM_153717.3

p.R340*

c.1018C>T

11 papers

NM_153717.3

p.Y258H

c.772T>C

11 papers

NM_153717.3

p.R576Q

c.1727G>A

9 papers

NM_153717.3

p.L623P

c.1868T>C

8 papers

NM_153717.3

p.T449K

c.1346C>A

8 papers

NM_153717.3

p.Q879*

c.2635C>T

7 papers

NM_153717.3

p.Q74P

c.221A>C

7 papers

NM_153717.3

p.K302del1

c.904_906delAAG

7 papers

NM_153717.3

p.R443Q

c.1328G>A

7 papers

NM_153717.3

p.A565delFs

c.1694delC