Varaico: Literature-Extracted Genetic Variants

Gene:DCAF12L1
Variant:p.Q3L

DCAF12L1

66 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 1

HGNC Previous Symbol

WDR40B

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_178470.5
p.Q3L
c.8A>T
Surrounding Variants
1 paper
NM_178470.5
p.K10N
c.30A>T
1 paper
NM_178470.5
p.P14P
c.42C>T
1 paper
NM_178470.5
p.A30T
c.88G>A
1 paper
NM_178470.5
p.P36L
c.107C>T
1 paper
NM_178470.5
p.S50W
c.149C>G
1 paper
NM_178470.5
p.Y54H
c.160T>C
1 paper
NM_178470.5
p.W63C
c.189G>T
1 paper
NM_178470.5
p.W63C
c.189G>C
1 paper
NM_178470.5
p.R67W
c.199A>T
2 papers
NM_178470.5
p.P84P
c.252C>T
1 paper
NM_178470.5
p.E126E
c.378G>A
1 paper
NM_178470.5
p.A131T
c.391G>A
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