Varaico: Literature-Extracted Genetic Variants

Gene:DCAF17
Variant:p.A17fs

DCAF17

121 papers

RefSeq Summary

This gene encodes a nuclear transmembrane protein that associates with cullin 4A/damaged DNA binding protein 1 ubiquitin ligase complex. Mutations in this gene are associated with Woodhouse-Sakati syn...

Pfam Domains

DCAF17aa 31–333UCSCDDB1- and CUL4-associated factor 17
DCAF17aa 328–438UCSCDDB1- and CUL4-associated factor 17

Gene Aliases

HGNC Name

DDB1 and CUL4 associated factor 17

HGNC Previous Symbol

C2orf37

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_025000.4
p.A17fs
c.49_50fs
Surrounding Variants
10 papers
NM_025000.4
p.A17delFs
c.50delC
1 paper
NM_025000.4
p.A17E
c.50C>A
1 paper
NM_025000.4
p.R15L
c.44G>T
1 paper
NM_025000.4
p.F21V
c.61T>G
1 paper
NM_025000.4
p.R12Q
c.35G>A
1 paper
NM_025000.4
p.D24H
c.70G>C
1 paper
NM_025000.4
p.K6R
c.17A>G
1 paper
NM_025000.4
p.Q29*
c.85C>T
1 paper
NM_025000.4
p.P3_A17delFs
c.7_49del43
1 paper
NM_025000.4
p.M1I
c.3G>T
1 paper
NM_025000.4
p.M1T
c.2T>C
5 papers
NM_025000.4
p.M1V
c.1A>G
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