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.Q1443Q

c.4329G>A

Surrounding Variants

1 paper

NM_001083961.2

p.G1442S

c.4324G>A

1 paper

NM_001083961.2

p.G1442R

c.4324G>C

1 paper

NM_001083961.2

p.G1442fs

c.4324_4325fs

1 paper

NM_001083961.2

p.G1447R

c.4339G>A

1 paper

NM_001083961.2

p.G1447R

c.4339G>C

2 papers

NM_001083961.2

p.Q1449*

c.4345C>T

1 paper

NM_001083961.2

p.V1437_L1438Splc

c.4312-1G>C

3 papers

NM_001083961.2

p.R1452W

c.4354C>T

1 paper

NM_001083961.2

p.E1454D

c.4362G>C

1 paper

NM_001083961.2

p.E1454D

c.4362G>T

1 paper

NM_001083961.2

p.I1462delFs

c.4384delA

1 paper

NM_001083961.2

p.L1466Q

c.4397T>A