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

20 papers

NM_001083961.2

p.P1312insFs

c.3936dupC

Surrounding Variants

1 paper

NM_001083961.2

p.Q1310L

c.3929A>T

1 paper

NM_001083961.2

p.P1312insFs

c.3935_3936insT

1 paper

NM_001083961.2

p.P1312_V1313insFs

c.3936_3937insT

1 paper

NM_001083961.2

p.V1313fs

c.3937_3938fs

7 papers

NM_001083961.2

p.V1313fs

c.3937_3938fs

1 paper

NM_001083961.2

p.G1307W

c.3919G>T

1 paper

NM_001083961.2

p.Q1316E

c.3946C>G

1 paper

NM_001083961.2

p.S1325C

c.3973A>T

8 papers

NM_001083961.2

p.A1293D

c.3878C>A

1 paper

NM_001083961.2

p.H1291R

c.3872A>G

1 paper

NM_001083961.2

p.S1330C

c.3988A>T

1 paper

NM_001083961.2

p.N1290D

c.3868A>G