Varaico: Literature-Extracted Genetic Variants

Gene:DCAF8
Variant:p.E30A

DCAF8

57 papers

RefSeq Summary

This gene encodes a WD repeat-containing protein that interacts with the Cul4-Ddb1 E3 ligase macromolecular complex. Multiple alternatively spliced transcript variants have been found for this gene. [...

Pfam Domains

WD40aa 183–221UCSCWD domain, G-beta repeat
WD40aa 422–463UCSCWD domain, G-beta repeat
WD40aa 467–506UCSCWD domain, G-beta repeat

Gene Aliases

HGNC Name

DDB1 and CUL4 associated factor 8

HGNC Previous Symbol

WDR42A

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_015726.4
p.E30A
c.89A>C
Surrounding Variants
1 paper
NM_015726.4
p.E30K
c.88G>A
1 paper
NM_015726.4
p.S37A
c.109T>G
1 paper
NM_015726.4
p.S88_I89delFs
c.263_266del4
1 paper
NM_015726.4
p.N90S
c.269A>G
1 paper
NM_015726.4
p.E92*
c.274G>T
1 paper
NM_015726.4
p.R98C
c.292C>T
1 paper
NM_015726.4
p.R98H
c.293G>A
1 paper
NM_015726.4
p.Q113H
c.339G>T
1 paper
NM_015726.4
p.Q113H
c.339G>C
1 paper
NM_015726.4
p.R120C
c.358C>T
1 paper
NM_015726.4
p.N124H
c.370A>C
1 paper
NM_015726.4
p.Q127L
c.380A>T
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