Varaico: Literature-Extracted Genetic Variants

WDR62

229 papers

RefSeq Summary

This gene is proposed to play a role in cerebral cortical development. Mutations in this gene have been associated with microencephaly, cortical malformations, and cognitive disability. Alternative sp...

Pfam Domains

WD40_MABP1-WDR62_1staa 74–401UCSCMABP1/WDR62 first WD40 domain

WD40aa 101–141UCSCWD domain, G-beta repeat

WD40aa 145–185UCSCWD domain, G-beta repeat

WD40_MABP1-WDR62_2ndaa 290–627UCSCMABP1/WDR62 second WD40 domain

WD40aa 403–441UCSCWD domain, G-beta repeat

WD40aa 490–520UCSCWD domain, G-beta repeat

Gene Aliases

HGNC Name

WD repeat domain 62

HGNC Previous Symbols

C19orf14; MCPH2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

18 papers

NM_001083961.2

p.R438H

c.1313G>A

Surrounding Variants

1 paper

NM_001083961.2

p.W440*

c.1319G>A

1 paper

NM_001083961.2

p.W440*

c.1320G>A

1 paper

NM_001083961.2

p.T430_C431insGA

c.1288_1292ins6

1 paper

NM_001083961.2

p.S427_F428insA

c.1279_1283ins3

1 paper

NM_001083961.2

p.G426A

c.1277G>C

1 paper

NM_001083961.2

p.S425T

c.1273T>A

1 paper

NM_001083961.2

p.L423_P424insFs

c.1269_1270insA

1 paper

NM_001083961.2

p.Q419*

c.1255C>T

1 paper

NM_001083961.2

p.V462delFs

c.1386delC

1 paper

NM_001083961.2

p.D468_I469delFs

c.1402_1406del5

15 papers

NM_001083961.2

p.Q470*

c.1408C>T

2 papers

NM_001083961.2

p.R481W

c.1441C>T