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

11 papers

NM_153717.3

p.Y258H

c.772T>C

Surrounding Variants

1 paper

NM_153717.3

p.Y258delins

c.772delinsTTAC

3 papers

NM_153717.3

p.L257Q

c.770T>A

4 papers

NM_153717.3

p.L257L

c.769C>T

1 paper

NM_153717.3

p.Q259*

c.775C>T

2 papers

NM_153717.3

p.L257_Y258delins

c.769_772delinsTTAC

1 paper

NM_153717.3

p.K267delFs

c.801delA

1 paper

NM_153717.3

p.L248F

c.742C>T

1 paper

NM_153717.3

p.K267_D268Splc

c.801+1G>T

5 papers

NM_153717.3

p.L245delFs

c.734delT

1 paper

NM_153717.3

p.L244_S253del0

c.731_757del27

1 paper

NM_153717.3

p.K241*

c.721A>T

1 paper

NM_153717.3

p.I237fs

c.709_710fs