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

1 paper

NM_001083961.2

p.V341M

c.1021G>A

Surrounding Variants

5 papers

NM_001083961.2

p.Q343*

c.1027C>T

1 paper

NM_001083961.2

p.G344D

c.1031G>A

1 paper

NM_001083961.2

p.L337I

c.1009C>A

1 paper

NM_001083961.2

p.L337insFs

c.1010dupT

1 paper

NM_001083961.2

p.Y336C

c.1007A>G

5 papers

NM_001083961.2

p.S348fs

c.1042_1043fs

12 papers

NM_001083961.2

p.S348Splc

c.1043+1G>A

4 papers

NM_001083961.2

p.S348Splc

c.1043+3A>G

1 paper

NM_001083961.2

p.Y327Y

c.981C>T

1 paper

NM_001083961.2

p.F320F

c.960C>T

1 paper

NM_001083961.2

p.V303D

c.908T>A

1 paper

NM_001083961.2

p.V303G

c.908T>G