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.I1228fs

c.3682_3683fs

Surrounding Variants

1 paper

NM_001083961.2

p.I1228Fs

c.3683delinsATATCFs

1 paper

NM_001083961.2

p.R1230C

c.3688C>T

1 paper

NM_001083961.2

p.R1225H

c.3674G>A

1 paper

NM_001083961.2

p.S1223Fs

c.3668delinsATATCFs

1 paper

NM_001083961.2

p.S1233C

c.3698C>G

2 papers

NM_001083961.2

p.E1219delFs

c.3655delG

1 paper

NM_001083961.2

p.Q1247Q

c.3741G>A

1 paper

NM_001083961.2

p.S1253*

c.3758C>A

2 papers

NM_001083961.2

p.T1196M

c.3587C>T

1 paper

NM_001083961.2

p.E1264*

c.3790G>T

1 paper

NM_001083961.2

p.T1190insFs

c.3568_3569insT

1 paper

NM_001083961.2

p.V1187M

c.3559G>A