Varaico: Literature-Extracted Genetic Variants

Gene:DCAF12L1
Variant:p.M318K

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.M318K
c.953T>A
Surrounding Variants
1 paper
NM_178470.5
p.V323M
c.967G>A
1 paper
NM_178470.5
p.H328Q
c.984C>G
1 paper
NM_178470.5
p.H328Q
c.984C>A
1 paper
NM_178470.5
p.V329L
c.985G>C
1 paper
NM_178470.5
p.Q338*
c.1012C>T
2 papers
NM_178470.5
p.R342W
c.1024C>T
1 paper
NM_178470.5
p.L288Q
c.863T>A
1 paper
NM_178470.5
p.L288M
c.862C>A
2 papers
NM_178470.5
p.F286V
c.856T>G
1 paper
NM_178470.5
p.T351K
c.1052C>A
1 paper
NM_178470.5
p.S281F
c.842C>T
1 paper
NM_178470.5
p.G272S
c.814G>A
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