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.G1146R

c.3436G>C

Surrounding Variants

1 paper

NM_001083961.2

p.H1154_V1155Splc

c.3462+1G>A

4 papers

NM_001083961.2

p.R1136*

c.3406C>T

1 paper

NM_001083961.2

p.H1154_V1155Splc

c.3462+8T>C

1 paper

NM_001083961.2

p.M1134R

c.3401T>G

1 paper

NM_001083961.2

p.S1128fs

c.3382_3383fs

1 paper

NM_001083961.2

p.S1128_M1134delFs

c.3383_3401del19

1 paper

NM_173636.5

p.V1121delFs

c.3361delG

1 paper

NM_001083961.2

p.A1121fs

c.3361_3362fs

6 papers

NM_001083961.2

p.A1121fs

c.3361_3362fs

10 papers

NM_001083961.2

p.A1121delFs

c.3361delG

1 paper

NM_001083961.2

p.P1119L

c.3356C>T

1 paper

NM_001083961.2

p.T1114I

c.3341C>T