Varaico: Literature-Extracted Genetic Variants

Gene:DCAF12L2
Variant:p.L75V

DCAF12L2

71 papers

RefSeq Summary

This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by Gly-His and Trp-Asp (GH-WD), which may fac...

Pfam Domains

Beta-prop_DCAF12aa 83–463UCSCDDB1- and CUL4-associated factor 12 beta propeller

Gene Aliases

HGNC Name

DDB1 and CUL4 associated factor 12 like 2

HGNC Previous Symbol

WDR40C

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001013628.3
p.L75V
c.223C>G
Surrounding Variants
1 paper
NM_001013628.3
p.R76Q
c.227G>A
1 paper
NM_001013628.3
p.G73C
c.217G>T
1 paper
NM_001013628.3
p.G77V
c.230G>T
1 paper
NM_001013628.3
p.G67V
c.200G>T
1 paper
NM_001013628.3
p.E85*
c.253G>T
1 paper
NM_001013628.3
p.R63W
c.187C>T
1 paper
NM_001013628.3
p.A62V
c.185C>T
1 paper
NM_001013628.3
p.L94M
c.280C>A
1 paper
NM_001013628.3
p.H53R
c.158A>G
1 paper
NM_001013628.3
p.L51R
c.152T>G
1 paper
NM_001013628.3
p.R49C
c.145C>T
1 paper
NM_001013628.3
p.R48L
c.143G>T
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