Varaico: Literature-Extracted Genetic Variants

Gene:DCAF17
Variant:p.K90delFs

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
8 papers
NM_025000.4
p.K90delFs
c.270delA
Surrounding Variants
5 papers
NM_025000.4
p.K90insFs
c.270dupA
4 papers
NM_025000.4
p.K90fs
c.268_269fs
1 paper
NM_025000.4
p.C91fs
c.271_272fs
4 papers
NM_025000.4
p.Y86H
c.256T>C
1 paper
NM_025000.4
p.L85P
c.254T>C
1 paper
NM_025000.4
p.I97insFs
c.289dupA
1 paper
NM_025000.4
p.P106L
c.317C>T
10 papers
NM_025000.4
p.V107_G108Splc
c.321+1G>A
1 paper
NM_025000.4
p.V107_G108Splc
c.321+6A>G
2 papers
NM_025000.4
p.V107_G108Splc
c.322-14C>T
1 paper
NM_025000.4
p.V107_G108Splc
c.322-2A>T
2 papers
NM_025000.4
p.G108fs
c.322_323fs
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