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.E928Splc

c.2783-3C>A

Surrounding Variants

1 paper

NM_153717.3

p.P930S

c.2788C>T

1 paper

NM_153717.3

p.P938S

c.2812C>T

1 paper

NM_153717.3

p.D953G

c.2858A>G

1 paper

NM_153717.3

p.G957R

c.2869G>A

1 paper

NM_153717.3

p.G957R

c.2869G>C

5 papers

NM_153717.3

p.S965Splc

c.2894+3A>G

1 paper

NM_153717.3

p.S966N

c.2897G>A

2 papers

NM_153717.3

p.E928Splc

c.2782+1G>T

1 paper

NM_153717.3

p.R924insFs

c.2771dupG

1 paper

NM_153717.3

p.L920F

c.2760G>C

1 paper

NM_153717.3

p.L920F

c.2760G>T

1 paper

NM_153717.3

p.L919L

c.2757G>C