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

1–12 of 417 variants

21 papers

NM_001083961.2

p.V65M

c.193G>A

20 papers

NM_001083961.2

p.D511N

c.1531G>A

20 papers

NM_001083961.2

p.P1312insFs

c.3936dupC

18 papers

NM_001083961.2

p.R438H

c.1313G>A

18 papers

NM_001083961.2

p.A1078T

c.3232G>A

17 papers

NM_001083961.2

p.W224S

c.671G>C

17 papers

NM_001083961.2

p.E526*

c.1576G>T

16 papers

NM_001083961.2

p.E526K

c.1576G>A

15 papers

NM_001083961.2

p.Q470*

c.1408C>T

14 papers

NM_001083961.2

p.C300*

c.900C>A

14 papers

NM_001083961.2

p.L1414insFs

c.4241dupT

13 papers

NM_001083961.2

p.P121delFs

c.363delT