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

9 papers

NM_001083961.2

p.E63D

c.189G>T

Surrounding Variants

8 papers

NM_001083961.2

p.E63D

c.189G>C

1 paper

NM_001083961.2

p.E63K

c.187G>A

21 papers

NM_001083961.2

p.V65M

c.193G>A

1 paper

NM_001083961.2

p.V65E

c.194T>A

1 paper

NM_001083961.2

p.R59_V60Splc

c.178-2A>G

1 paper

NM_001083961.2

p.I68T

c.203T>C

1 paper

NM_001083961.2

p.A70V

c.209C>T

1 paper

NM_001083961.2

p.L76P

c.227T>C

1 paper

NM_001083961.2

p.H84insFs

c.250dupC

1 paper

NM_001083961.2

p.H84fs

c.250_251fs

5 papers

NM_001083961.2

p.V85M

c.253G>A

1 paper

NM_001083961.2

p.G90V

c.269G>T