Varaico: Literature-Extracted Genetic Variants

WDR3

89 papers

RefSeq Summary

This gene encodes a nuclear protein containing 10 WD repeats. WD repeats are approximately 30- to 40-amino acid domains containing several conserved residues, which usually include a trp-asp at the C-...

Pfam Domains

Beta-prop_WDR3_1staa 37–220UCSCWDR3 first beta-propeller domain

Beta-prop_WDR3_2ndaa 417–709UCSCWDR3 second beta-propeller domain

Utp12aa 804–907UCSCDip2/Utp12 Family

Gene Aliases

HGNC Name

WD repeat domain 3

HGNC Alias Symbols

FLJ12796; UTP12; DIP2

Papers

RefSeq ID

Protein change

DNA change

1–12 of 91 variants

6 papers

NM_006784.3

p.P234A

c.700C>G

2 papers

NM_006784.3

p.A210V

c.629C>T

2 papers

NM_006784.3

p.E225*

c.673G>T

2 papers

NM_006784.3

p.R276Q

c.827G>A

2 papers

NM_006784.3

p.T400A

c.1198A>G

1 paper

NM_006784.3

p.Y10delFs

c.28delT

1 paper

NM_006784.3

p.L31delins

c.92delinsGACG

1 paper

NM_006784.3

p.R37H

c.110G>A

1 paper

NM_006784.3

p.Y38C

c.113A>G

1 paper

NM_006784.3

p.Q66*

c.196C>T

1 paper

NM_006784.3

p.P73A

c.217C>G

1 paper

NM_006784.3

p.E85G

c.254A>G