Varaico: Literature-Extracted Genetic Variants

Gene:DCAF12L1
Variant:p.R266W

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.R266W
c.796C>T
Surrounding Variants
1 paper
NM_178470.5
p.R266G
c.796C>G
1 paper
NM_178470.5
p.A269D
c.806C>A
1 paper
NM_178470.5
p.G271S
c.811G>A
1 paper
NM_178470.5
p.P260P
c.780C>A
1 paper
NM_178470.5
p.G272S
c.814G>A
1 paper
NM_178470.5
p.S281F
c.842C>T
2 papers
NM_178470.5
p.F286V
c.856T>G
1 paper
NM_178470.5
p.L288M
c.862C>A
1 paper
NM_178470.5
p.L288Q
c.863T>A
1 paper
NM_178470.5
p.V241L
c.721G>T
1 paper
NM_178470.5
p.V241L
c.721G>C
2 papers
NM_178470.5
p.P240P
c.720C>T
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