Varaico: Literature-Extracted Genetic Variants

Gene:DCAF17
Variant:p.K364Splc

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
6 papers
NM_025000.4
p.K364Splc
c.1091+2T>C
Surrounding Variants
7 papers
NM_025000.4
p.K364Splc
c.1091+1G>A
12 papers
NM_025000.4
p.K364Splc
c.1091+6T>G
1 paper
NM_025000.4
p.K364Splc
c.1091+28T>G
2 papers
NM_025000.4
p.W344R
c.1030T>A
2 papers
NM_025000.4
p.W344R
c.1030T>C
1 paper
NM_025000.4
p.I332delFs
c.995delT
1 paper
NM_025000.4
p.A328insFs
c.983_984insA
1 paper
NM_025000.4
p.L327_A328Splc
c.982-2A>G
1 paper
NM_025000.4
p.V365fs
c.1093_1094fs
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.S376_A388del13
c.1126_1163del39
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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."