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.Q499R

c.1496A>G

Surrounding Variants

1 paper

NM_001083961.2

p.Q499H

c.1497G>T

1 paper

NM_001083961.2

p.V500D

c.1499T>A

5 papers

NM_001083961.2

p.G494R

c.1480G>A

3 papers

NM_001083961.2

p.G494R

c.1480G>C

1 paper

NM_001083961.2

p.A493delFs

c.1477delG

3 papers

NM_001083961.2

p.L507L

c.1521G>A

2 papers

NM_001083961.2

p.S509L

c.1526C>T

20 papers

NM_001083961.2

p.D511N

c.1531G>A

1 paper

NM_001083961.2

p.R512G

c.1534C>G

2 papers

NM_001083961.2

p.R512Q

c.1535G>A

1 paper

NM_001083961.2

p.R512L

c.1535G>T

2 papers

NM_001083961.2

p.R481W

c.1441C>T