Varaico: Literature-Extracted Genetic Variants

Gene:DCAF12L2

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
1–12 of 74 variants
7 papers
NM_001013628.3
p.R337H
c.1010G>A
5 papers
NM_001013628.3
p.P334L
c.1001C>T
2 papers
NM_001013628.3
p.W196L
c.587G>T
2 papers
NM_001013628.3
p.A199T
c.595G>A
2 papers
NM_001013628.3
p.P240P
c.720A>C
2 papers
NM_001013628.3
p.R246H
c.737G>A
2 papers
NM_001013628.3
p.C406C
c.1218C>T
1 paper
NM_001013628.3
p.Q4H
c.12G>C
1 paper
NM_001013628.3
p.Q5K
c.13C>A
1 paper
NM_001013628.3
p.E17K
c.49G>A
1 paper
NM_001013628.3
p.A20V
c.59C>T
1 paper
NM_001013628.3
p.S23*
c.68C>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."