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

13 papers

NM_001083961.2

p.P121delFs

c.363delT

Surrounding Variants

1 paper

NM_001083961.2

p.S120_P121delFs

c.359_363del5

2 papers

NM_001083961.2

p.L117P

c.350T>C

1 paper

NM_001083961.2

p.L117L

c.349C>T

1 paper

NM_001083961.2

p.T128_G129delFs

c.384_385delAG

1 paper

NM_001083961.2

p.K112T

c.335A>C

11 papers

NM_001083961.2

p.E130E

c.390G>A

1 paper

NM_001083961.2

p.R111Splc

c.333-6C>A

1 paper

NM_001083961.2

p.N131fs

c.391_392fs

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.V142V

c.426G>A

1 paper

NM_001083961.2

p.E143insFs

c.427_428insA