Varaico: Literature-Extracted Genetic Variants

Gene:DCAF12L1
Variant:p.D146A

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
2 papers
NM_178470.5
p.D146A
c.437A>C
Surrounding Variants
2 papers
NM_178470.5
p.Q145*
c.433C>T
1 paper
NM_178470.5
p.Q148K
c.442C>A
1 paper
NM_178470.5
p.R142K
c.425G>A
1 paper
NM_178470.5
p.I152L
c.454A>C
1 paper
NM_178470.5
p.L136fs
c.406_407fs
2 papers
NM_178470.5
p.L136delFs
c.406_407delAA
1 paper
NM_178470.5
p.L157P
c.470T>C
1 paper
NM_178470.5
p.I133S
c.398T>G
2 papers
NM_178470.5
p.P159L
c.476C>T
1 paper
NM_178470.5
p.A131T
c.391G>A
1 paper
NM_178470.5
p.E126E
c.378G>A
2 papers
NM_178470.5
p.G168S
c.502G>A
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