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.G882V

c.2645G>T

Surrounding Variants

8 papers

NM_153717.3

p.Q879*

c.2635C>T

1 paper

NM_153717.3

p.Q879Fs

c.2635delinsTTFs

1 paper

NM_153717.3

p.R873_L874insT

c.2617_2621ins3

4 papers

NM_153717.3

p.Q896H

c.2688G>C

4 papers

NM_153717.3

p.Q896H

c.2688G>T

1 paper

NM_153717.3

p.A864V

c.2591C>T

1 paper

NM_153717.3

p.F902delFs

c.2705delT

1 paper

NM_153717.3

p.F902fs

c.2704_2705fs

2 papers

NM_153717.3

p.S904_L906del3

c.2710_2717del9

2 papers

NM_153717.3

p.A910_R911insA

c.2728_2732ins3

6 papers

NM_153717.3

p.R911*

c.2731C>T

1 paper

NM_153717.3

p.K918*

c.2752A>T