Varaico: Literature-Extracted Genetic Variants

Gene:DCAF17
Variant:p.E391insFs

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.E391insFs
c.1171dupG
Surrounding Variants
1 paper
NM_025000.4
p.I386insFs
c.1157dupT
1 paper
NM_025000.4
p.S376_A388del13
c.1126_1163del39
1 paper
NM_025000.4
p.E370Q
c.1108G>C
4 papers
NM_025000.4
p.I371delFs
c.1111delA
1 paper
NM_025000.4
p.V365fs
c.1093_1094fs
1 paper
NM_001164821.2
p.L332delFs
c.995delT
8 papers
NM_025000.4
p.N413delFs
c.1238delA
2 papers
NM_025000.4
p.N413fs
c.1237_1238fs
1 paper
NM_025000.4
p.K364Splc
c.1091+28T>G
12 papers
NM_025000.4
p.K364Splc
c.1091+6T>G
6 papers
NM_025000.4
p.K364Splc
c.1091+2T>C
7 papers
NM_025000.4
p.K364Splc
c.1091+1G>A
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