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

1–12 of 240 variants

5 papers

NM_033656.4

p.Q83E

c.247C>G

5 papers

NM_033656.4

p.S1511P

c.4531T>C

5 papers

NM_033656.4

p.Q1858L

c.5573A>T

3 papers

NM_033656.4

p.G56S

c.166G>A

3 papers

NM_033656.4

p.T1480A

c.4438A>G

3 papers

NM_033656.4

p.L1699P

c.5096T>C

3 papers

NM_033656.4

p.K2156R

c.6467A>G

2 papers

NM_033656.4

p.H175Y

c.523C>T

2 papers

NM_033656.4

p.R219H

c.656G>A

2 papers

NM_033656.4

p.L339S

c.1016T>C

2 papers

NM_033656.4

p.F494I

c.1480T>A

2 papers

NM_033656.4

p.G517*

c.1549G>T