Varaico: Literature-Extracted Genetic Variants

Gene:DCAF12L1
Variant:p.G448insFs

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.G448insFs
c.1344dupG
Surrounding Variants
1 paper
NM_178470.5
p.P449fs
c.1345_1346fs
1 paper
NM_178470.5
p.G456W
c.1366G>T
1 paper
NM_178470.5
p.Y436S
c.1307A>C
1 paper
NM_178470.5
p.N429S
c.1286A>G
1 paper
NM_178470.5
p.V426E
c.1277T>A
1 paper
NM_178470.5
p.R408S
c.1224A>T
1 paper
NM_178470.5
p.R408S
c.1224A>C
1 paper
NM_178470.5
p.R408G
c.1222A>G
2 papers
NM_178470.5
p.C406_G407del2
c.1216_1220del6
1 paper
NM_178470.5
p.C406F
c.1217G>T
1 paper
NM_178470.5
p.G396R
c.1186G>C
1 paper
NM_178470.5
p.G396R
c.1186G>A
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