Varaico: Literature-Extracted Genetic Variants

Gene:DCAF12L2
Variant:p.Y314*

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.Y314*
c.942C>G
Surrounding Variants
1 paper
NM_001013628.3
p.Y314*
c.942C>A
1 paper
NM_001013628.3
p.L318*
c.953T>A
1 paper
NM_001013628.3
p.R307Q
c.920G>A
1 paper
NM_001013628.3
p.R302R
c.906G>A
5 papers
NM_001013628.3
p.P334L
c.1001C>T
1 paper
NM_001013628.3
p.R335C
c.1003C>T
1 paper
NM_001013628.3
p.R292Q
c.875G>A
1 paper
NM_001013628.3
p.R337C
c.1009C>T
1 paper
NM_001013628.3
p.R337S
c.1009C>A
7 papers
NM_001013628.3
p.R337H
c.1010G>A
1 paper
NM_001013628.3
p.L288fs
c.862_863fs
1 paper
NM_001013628.3
p.L288delFs
c.862delG
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