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

5 papers

NM_153717.3

p.G618G

c.1854C>T

Surrounding Variants

1 paper

NM_153717.3

p.G618D

c.1853G>A

2 papers

NM_153717.3

p.L620_L626del0

c.1858_1878del21

3 papers

NM_153717.3

p.G618S

c.1852G>A

1 paper

NM_153717.3

p.G621V

c.1862G>T

2 papers

NM_153717.3

p.R622*

c.1864C>T

9 papers

NM_153717.3

p.L623P

c.1868T>C

1 paper

NM_153717.3

p.G624V

c.1871G>T

1 paper

NM_153717.3

p.R609W

c.1825C>T

2 papers

NM_153717.3

p.E629Splc

c.1886+5G>A

15 papers

NM_153717.3

p.E629Splc

c.1886+5G>T

6 papers

NM_153717.3

p.Q605*

c.1813C>T

1 paper

NM_153717.3

p.Q592_V593Splc

c.1777-1G>A