Varaico: Literature-Extracted Genetic Variants

Gene:DCAF12L2
Variant:p.S23*

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.S23*
c.68C>A
Surrounding Variants
1 paper
NM_001013628.3
p.S24T
c.70T>A
1 paper
NM_001013628.3
p.A20V
c.59C>T
1 paper
NM_001013628.3
p.E17K
c.49G>A
1 paper
NM_001013628.3
p.A31A
c.93G>A
1 paper
NM_001013628.3
p.G33R
c.97G>C
1 paper
NM_001013628.3
p.G33R
c.97G>A
1 paper
NM_001013628.3
p.Q5K
c.13C>A
1 paper
NM_001013628.3
p.Q4H
c.12G>C
1 paper
NM_001013628.3
p.K43M
c.128A>T
1 paper
NM_001013628.3
p.R48L
c.143G>T
1 paper
NM_001013628.3
p.R49C
c.145C>T
1 paper
NM_001013628.3
p.L51R
c.152T>G
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