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

17 papers

NM_001083961.2

p.E526*

c.1576G>T

Surrounding Variants

16 papers

NM_001083961.2

p.E526K

c.1576G>A

1 paper

NM_001083961.2

p.M524_V528del5

c.1570_1583del15

1 paper

NM_001083961.2

p.V530insFs

c.1589dupT

1 paper

NM_001083961.2

p.E531fs

c.1591_1592fs

1 paper

NM_001083961.2

p.A532insFs

c.1594dupG

2 papers

NM_001083961.2

p.H533R

c.1598A>G

10 papers

NM_001083961.2

p.A535_E536insA

c.1603_1607ins3

7 papers

NM_001083961.2

p.A535_E536insFs

c.1605_1606insT

8 papers

NM_001083961.2

p.E536*

c.1606G>T

1 paper

NM_001083961.2

p.T547M

c.1640C>T

1 paper

NM_001083961.2

p.G548Splc

c.1642+2T>G

1 paper

NM_001083961.2

p.G548Splc

c.1642+9G>A