Varaico: Literature-Extracted Genetic Variants

Gene:DCAF12
Variant:p.S320P

DCAF12

30 papers

RefSeq Summary

This gene encodes a WD repeat-containing protein that interacts with the COP9 signalosome, a macromolecular complex that interacts with cullin-RING E3 ligases and regulates their activity by hydrolyzi...

Pfam Domains

Beta-prop_DCAF12aa 75–453UCSCDDB1- and CUL4-associated factor 12 beta propeller

Gene Aliases

HGNC Name

DDB1 and CUL4 associated factor 12

HGNC Previous Symbols

KIAA1892; WDR40A

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_015397.4
p.S320P
c.958T>C
Surrounding Variants
1 paper
NM_015397.4
p.D323N
c.967G>A
1 paper
NM_015397.4
p.C335F
c.1004G>T
1 paper
NM_015397.4
p.R339Q
c.1016G>A
1 paper
NM_015397.4
p.N283S
c.848A>G
1 paper
NM_015397.4
p.A379P
c.1135G>C
1 paper
NM_015397.4
p.C380W
c.1140T>G
1 paper
NM_015397.4
p.P418S
c.1252C>T
1 paper
NM_015397.4
p.K432Q
c.1294A>C
1 paper
NM_015397.4
p.K245fs
c.733_734fs
1 paper
NM_015397.4
p.H237D
c.709C>G
1 paper
NM_015397.4
p.N225S
c.674A>G
1 paper
NM_015397.4
p.A222V
c.665C>T
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