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

6 papers

NM_001083961.2

p.F223S

c.668T>C

Surrounding Variants

17 papers

NM_001083961.2

p.W224S

c.671G>C

1 paper

NM_001083961.2

p.L226*

c.677T>A

1 paper

NM_001083961.2

p.V216F

c.646G>T

1 paper

NM_001083961.2

p.T215P

c.643A>C

1 paper

NM_001083961.2

p.V214insFs

c.642dupC

1 paper

NM_001083961.2

p.F213delFs

c.637delT

1 paper

NM_001083961.2

p.E208insFs

c.622_623insG

1 paper

NM_001083961.2

p.S205fs

c.613_614fs

1 paper

NM_001083961.2

p.L204H

c.611T>A

1 paper

NM_001083961.2

p.S205delFs

c.613_614delTC

1 paper

NM_001083961.2

p.A203insFs

c.609dupC

1 paper

NM_001083961.2

p.I202T

c.605T>C