Varaico: Literature-Extracted Genetic Variants

BRWD1

166 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) residues which...

Pfam Domains

BRWD1_Naa 1–90UCSCBRWD1-like, N-terminal domain

WD40aa 177–214UCSCWD domain, G-beta repeat

WD40aa 218–256UCSCWD domain, G-beta repeat

WD40aa 260–302UCSCWD domain, G-beta repeat

WD40aa 358–396UCSCWD domain, G-beta repeat

WD40aa 458–497UCSCWD domain, G-beta repeat

Gene Aliases

HGNC Name

bromodomain and WD repeat domain containing 1

HGNC Previous Symbol

C21orf107

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_033656.4

p.I201_F202insFs

c.603_604insG

Surrounding Variants

1 paper

NM_033656.4

p.I201I

c.603C>A

1 paper

NM_033656.4

p.T197A

c.589A>G

1 paper

NM_033656.4

p.I182insFs

c.545dupT

1 paper

NM_033656.4

p.M178fs

c.532_533fs

2 papers

NM_033656.4

p.H175Y

c.523C>T

1 paper

NM_033656.4

p.Q174K

c.520C>A

1 paper

NM_033656.4

p.S165G

c.493A>G

1 paper

NM_033656.4

p.S162A

c.484T>G

1 paper

NM_033656.4

p.L158F

c.472C>T

1 paper

NM_033656.4

p.E151D

c.453G>T

1 paper

NM_033656.4

p.E151D

c.453G>C

1 paper

NM_033656.4

p.Y143_S145del3

c.427_434del9