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.S572*

c.1715C>G

Surrounding Variants

2 papers

NM_153717.3

p.S572*

c.1715C>A

1 paper

NM_153717.3

p.R574G

c.1720C>G

1 paper

NM_153717.3

p.R576W

c.1726C>T

11 papers

NM_153717.3

p.R576Q

c.1727G>A

1 paper

NM_153717.3

p.A566T

c.1696G>A

1 paper

NM_153717.3

p.Q579H

c.1737G>C

1 paper

NM_153717.3

p.A565S

c.1693G>T

1 paper

NM_153717.3

p.Q579H

c.1737G>T

7 papers

NM_153717.3

p.A565delFs

c.1694delC

2 papers

NM_153717.3

p.A565fs

c.1693_1694fs

1 paper

NM_153717.3

p.L582_F583delFs

c.1746_1747delCT

1 paper

NM_153717.3

p.Q562R

c.1685A>G