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

2 papers

NM_153717.3

p.N313_M314Splc

c.939+1G>A

Surrounding Variants

2 papers

NM_153717.3

p.N313_M314Splc

c.939+4C>T

1 paper

NM_153717.3

p.N313_M314Splc

c.939+5G>A

1 paper

NM_153717.3

p.N313_M314Splc

c.939+10A>G

1 paper

NM_153717.3

p.L310V

c.928C>G

1 paper

NM_153717.3

p.E308delFs

c.922_923delGA

16 papers

NM_153717.3

p.S307P

c.919T>C

1 paper

NM_153717.3

p.R304insFs

c.911_912insA

5 papers

NM_153717.3

p.R304insFs

c.910_911insA

7 papers

NM_153717.3

p.K302del1

c.904_906delAAG

3 papers

NM_153717.3

p.T295S

c.884C>G

2 papers

NM_153717.3

p.T295S

c.883A>T

1 paper

NM_153717.3

p.Y293C

c.878A>G