Varaico: Literature-Extracted Genetic Variants

Gene:DCAF12L2
Variant:p.D138D

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.D138D
c.414C>T
Surrounding Variants
1 paper
NM_001013628.3
p.K139M
c.416A>T
1 paper
NM_001013628.3
p.H147Q
c.441C>G
1 paper
NM_001013628.3
p.H147Q
c.441C>A
1 paper
NM_001013628.3
p.G149S
c.445G>A
1 paper
NM_001013628.3
p.D124N
c.370G>A
1 paper
NM_001013628.3
p.T119R
c.356C>G
1 paper
NM_001013628.3
p.T162K
c.485C>A
1 paper
NM_001013628.3
p.Q178K
c.532C>A
1 paper
NM_001013628.3
p.L182L
c.546G>A
1 paper
NM_001013628.3
p.L94M
c.280C>A
1 paper
NM_001013628.3
p.P184S
c.550C>T
1 paper
NM_001013628.3
p.D189N
c.565G>A
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