Varaico: Literature-Extracted Genetic Variants

Gene:DCAF17
Variant:p.D453Y

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.D453Y
c.1357G>T
Surrounding Variants
1 paper
NM_025000.4
p.V474_T475Splc
c.1422+3G>T
13 papers
NM_025000.4
p.V474_T475Splc
c.1422+5G>T
1 paper
NM_025000.4
p.D428G
c.1283A>G
1 paper
NM_025000.4
p.V474_T475Splc
c.1422+13C>T
1 paper
NM_025000.4
p.Y476H
c.1426T>C
4 papers
NM_025000.4
p.R496_V497delFs
c.1488_1489delAG
1 paper
NM_025000.4
p.C500W
c.1500C>G
1 paper
NM_025000.4
p.Y503H
c.1507T>C
4 papers
NM_025000.4
p.C507R
c.1519T>C
2 papers
NM_025000.4
p.N413fs
c.1237_1238fs
8 papers
NM_025000.4
p.N413delFs
c.1238delA
1 paper
NM_001164821.2
p.L332delFs
c.995delT
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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."