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

Selected Variant

1 paper

NM_001017930.2

p.G591C

c.1771G>T

Surrounding Variants

1 paper

NM_001017930.2

p.E589*

c.1765G>T

1 paper

NM_001017930.2

p.S587S

c.1761C>T

1 paper

NM_001017930.2

p.E579D

c.1737G>T

1 paper

NM_001017930.2

p.E579D

c.1737G>C

1 paper

NM_001017930.2

p.D578fs

c.1732_1733fs

1 paper

NM_001017930.2

p.D578delFs

c.1733delT

1 paper

NM_001017930.2

p.R553H

c.1658G>A

1 paper

NM_001017930.2

p.G520V

c.1559G>T

1 paper

NM_001017930.2

p.W508fs

c.1522_1523fs

1 paper

NM_001017930.2

p.Q503fs

c.1507_1508fs

1 paper

NM_001017930.2

p.D479G

c.1436A>G

1 paper

NM_001017930.2

p.G478R

c.1432G>C