Varaico: Literature-Extracted Genetic Variants

Gene:DCAF17
Variant:p.L146delFs

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
40 papers
NM_025000.4
p.L146delFs
c.436delC
Surrounding Variants
2 papers
NM_025000.4
p.L146fs
c.436_437fs
1 paper
NM_025000.4
p.A147_P148insFs
c.439_442dup4
1 paper
NM_025000.4
p.A147fs
c.439_440fs
17 papers
NM_025000.4
p.A147fs
c.439_440fs
2 papers
NM_025000.4
p.P148insFs
c.442dupC
1 paper
NM_025000.4
p.K151R
c.452A>G
2 papers
NM_025000.4
p.R153Splc
c.458+1G>T
1 paper
NM_025000.4
p.R153Splc
c.458+4T>A
1 paper
NM_025000.4
p.S134L
c.401C>T
1 paper
NM_025000.4
p.R132H
c.395G>A
10 papers
NM_025000.4
p.W129*
c.387G>A
5 papers
NM_025000.4
p.W129*
c.386G>A
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