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.R1096H

c.3287G>A

Surrounding Variants

1 paper

NM_001083961.2

p.P1095R

c.3284C>G

1 paper

NM_001083961.2

p.S1100C

c.3299C>G

1 paper

NM_001083961.2

p.T1101M

c.3302C>T

1 paper

NM_001083961.2

p.Q1102H

c.3306G>C

1 paper

NM_001083961.2

p.Q1102H

c.3306G>T

1 paper

NM_001083961.2

p.S1106G

c.3316A>G

1 paper

NM_173636.5

p.L1102F

c.3304C>T

1 paper

NM_001083961.2

p.V1083A

c.3248T>C

1 paper

NM_173636.5

p.V1078M

c.3232G>A

6 papers

NM_001083961.2

p.R1112Splc

c.3335+1G>C

18 papers

NM_001083961.2

p.A1078T

c.3232G>A

1 paper

NM_001083961.2

p.T1114I

c.3341C>T