Varaico: Literature-Extracted Genetic Variants

Gene:DCAF17

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
1–12 of 113 variants
40 papers
NM_025000.4
p.L146delFs
c.436delC
17 papers
NM_025000.4
p.A147fs
c.439_440fs
14 papers
NM_025000.4
p.W302*
c.906G>A
13 papers
NM_025000.4
p.V474_T475Splc
c.1422+5G>T
12 papers
NM_025000.4
p.K364Splc
c.1091+6T>G
10 papers
NM_025000.4
p.A17delFs
c.50delC
10 papers
NM_025000.4
p.V107_G108Splc
c.321+1G>A
10 papers
NM_025000.4
p.W129*
c.387G>A
9 papers
NM_025000.4
p.S114*
c.341C>A
8 papers
NM_025000.4
p.K90delFs
c.270delA
8 papers
NM_025000.4
p.N413delFs
c.1238delA
7 papers
NM_025000.4
p.K364Splc
c.1091+1G>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."