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.E439Splc

c.1316-20G>T

Surrounding Variants

2 papers

NM_153717.3

p.E439Splc

c.1316-7A>G

1 paper

NM_153717.3

p.F440L

c.1318T>C

1 paper

NM_153717.3

p.F440L

c.1320T>A

1 paper

NM_153717.3

p.F440L

c.1320T>G

1 paper

NM_153717.3

p.V441I

c.1321G>A

1 paper

NM_153717.3

p.V441_Q442ins5

c.1321_1325ins15

2 papers

NM_153717.3

p.R443*

c.1327C>T

7 papers

NM_153717.3

p.R443Q

c.1328G>A

1 paper

NM_153717.3

p.K445Q

c.1333A>C

8 papers

NM_153717.3

p.T449K

c.1346C>A

2 papers

NM_153717.3

p.A450V

c.1349C>T

3 papers

NM_153717.3

p.E457K

c.1369G>A