Varaico: Literature-Extracted Genetic Variants

Gene:DCAF12L2
Variant:p.S257R

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.S257R
c.771C>G
Surrounding Variants
1 paper
NM_001013628.3
p.S257R
c.771C>A
1 paper
NM_001013628.3
p.S257R
c.769A>C
1 paper
NM_001013628.3
p.R266W
c.796C>T
2 papers
NM_001013628.3
p.R246H
c.737G>A
1 paper
NM_001013628.3
p.A243T
c.727G>A
2 papers
NM_001013628.3
p.P240P
c.720A>C
1 paper
NM_001013628.3
p.L288delFs
c.862delG
1 paper
NM_001013628.3
p.L288fs
c.862_863fs
1 paper
NM_001013628.3
p.R292Q
c.875G>A
1 paper
NM_001013628.3
p.R302R
c.906G>A
1 paper
NM_001013628.3
p.R307Q
c.920G>A
1 paper
NM_001013628.3
p.Y314*
c.942C>G
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