Varaico: Literature-Extracted Genetic Variants

DCAF8L1

49 papers

RefSeq Summary

This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by Gly-His and Trp-Asp (GH-WD), which may fac...

Pfam Domains

WD40aa 186–224UCSCWD domain, G-beta repeat

WD40aa 425–466UCSCWD domain, G-beta repeat

WD40aa 470–509UCSCWD domain, G-beta repeat

Gene Aliases

HGNC Name

DDB1 and CUL4 associated factor 8 like 1

HGNC Previous Symbol

WDR42B

Papers

RefSeq ID

Protein change

DNA change

1–12 of 52 variants

2 papers

NM_001017930.2

p.T33K

c.98C>A

1 paper

NM_001017930.2

p.A34P

c.100G>C

1 paper

NM_001017930.2

p.G49*

c.145G>T

1 paper

NM_001017930.2

p.G51A

c.152G>C

1 paper

NM_001017930.2

p.D53Y

c.157G>T

1 paper

NM_001017930.2

p.L60L

c.178C>T

1 paper

NM_001017930.2

p.L60M

c.178C>A

1 paper

NM_001017930.2

p.L60R

c.179T>G

1 paper

NM_001017930.2

p.S74I

c.221G>T

1 paper

NM_001017930.2

p.V79I

c.235G>A

1 paper

NM_001017930.2

p.G85V

c.254G>T

1 paper

NM_001017930.2

p.R100G

c.298A>G