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.V1437_L1438Splc

c.4311+8A>C

Surrounding Variants

1 paper

NM_001083961.2

p.D1433N

c.4297G>A

1 paper

NM_001083961.2

p.Q1425*

c.4273C>T

1 paper

NM_001083961.2

p.S1415fs

c.4243_4244fs

1 paper

NM_001083961.2

p.L1414fs

c.4240_4241fs

14 papers

NM_001083961.2

p.L1414insFs

c.4241dupT

1 paper

NM_001083961.2

p.V1437_L1438Splc

c.4312-1G>C

1 paper

NM_001083961.2

p.G1442S

c.4324G>A

1 paper

NM_001083961.2

p.G1442R

c.4324G>C

1 paper

NM_001083961.2

p.G1442fs

c.4324_4325fs

1 paper

NM_173636.5

p.L1402_P1403delFs

c.4205_4208del4

1 paper

NM_001083961.2

p.Q1443Q

c.4329G>A

1 paper

NM_001083961.2

p.G1447R

c.4339G>A