Varaico: Literature-Extracted Genetic Variants

Gene:DCAF12L2
Variant:p.R378H

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.R378H
c.1133G>A
Surrounding Variants
1 paper
NM_001013628.3
p.A379T
c.1135G>A
1 paper
NM_001013628.3
p.D392E
c.1176C>G
1 paper
NM_001013628.3
p.D392E
c.1176C>A
1 paper
NM_001013628.3
p.A398S
c.1192G>T
1 paper
NM_001013628.3
p.G399R
c.1195G>C
1 paper
NM_001013628.3
p.G399R
c.1195G>A
1 paper
NM_001013628.3
p.S355L
c.1064C>T
1 paper
NM_001013628.3
p.V353M
c.1057G>A
2 papers
NM_001013628.3
p.C406C
c.1218C>T
1 paper
NM_001013628.3
p.R342W
c.1024C>T
7 papers
NM_001013628.3
p.R337H
c.1010G>A
1 paper
NM_001013628.3
p.R337C
c.1009C>T
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