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.T527T

c.1581C>T

Surrounding Variants

1 paper

NM_153717.3

p.E522E

c.1566G>A

1 paper

NM_153717.3

p.Q521_E522Splc

c.1564-6C>T

1 paper

NM_153717.3

p.T542_P544insFs

c.1626_1630dup5

1 paper

NM_153717.3

p.T542M

c.1625C>T

1 paper

NM_153717.3

p.P544fs

c.1630_1631fs

1 paper

NM_153717.3

p.L549fs

c.1645_1646fs

1 paper

NM_153717.3

p.L549delFs

c.1646delT

1 paper

NM_153717.3

p.P550S

c.1648C>T

2 papers

NM_153717.3

p.P551fs

c.1651_1652fs

1 paper

NM_153717.3

p.P551P

c.1653G>A

4 papers

NM_153717.3

p.E560*

c.1678G>T

1 paper

NM_153717.3

p.Q562R

c.1685A>G