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.S1393I

c.4178G>T

Surrounding Variants

2 papers

NM_001083961.2

p.L1390F

c.4170A>C

2 papers

NM_001083961.2

p.L1390F

c.4170A>T

1 paper

NM_001083961.2

p.G1388S

c.4162G>A

2 papers

NM_001083961.2

p.L1387I

c.4159C>A

1 paper

NM_001083961.2

p.P1400S

c.4198C>T

1 paper

NM_001083961.2

p.G1385fs

c.4153_4154fs

1 paper

NM_001083961.2

p.V1402_A1406del5

c.4204_4217del15

1 paper

NM_001083961.2

p.V1402fs

c.4204_4205fs

5 papers

NM_001083961.2

p.V1402fs

c.4204_4205fs

5 papers

NM_001083961.2

p.V1402_P1403delFs

c.4205_4208del4

1 paper

NM_001083961.2

p.G1385Splc

c.4154-6C>G

1 paper

NM_173636.5

p.L1402_P1403delFs

c.4205_4208del4