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.E143insFs

c.427_428insA

Surrounding Variants

1 paper

NM_001083961.2

p.V142V

c.426G>A

1 paper

NM_001083961.2

p.E144insFs

c.430_431insGA

1 paper

NM_001083961.2

p.K145_N146del2

c.433_437del6

1 paper

NM_001083961.2

p.V137L

c.409G>C

1 paper

NM_001083961.2

p.V137L

c.409G>T

1 paper

NM_001083961.2

p.N131fs

c.391_392fs

1 paper

NM_001083961.2

p.A159A

c.477G>T

1 paper

NM_001083961.2

p.F163L

c.489C>G

1 paper

NM_001083961.2

p.S172P

c.514T>C

1 paper

NM_001083961.2

p.G174C

c.520G>T

1 paper

NM_001083961.2

p.Y175_Q176delFs

c.524_528del5

10 papers

NM_001083961.2

p.M179insFs

c.535_536insA