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.I2237M

c.6711A>G

Surrounding Variants

1 paper

NM_033656.4

p.R2233Q

c.6698G>A

1 paper

NM_033656.4

p.D2263N

c.6787G>A

1 paper

NM_033656.4

p.A2196T

c.6586G>A

1 paper

NM_033656.4

p.T2181fs

c.6541_6542fs

1 paper

NM_033656.4

p.T2181M

c.6542C>T

2 papers

NM_033656.4

p.T2181delFs

c.6541delT

1 paper

NM_033656.4

p.T2181fs

c.6541_6542fs

3 papers

NM_033656.4

p.K2156R

c.6467A>G

1 paper

NM_033656.4

p.S2155F

c.6464C>T

1 paper

NM_033656.4

p.I2140T

c.6419T>C

1 paper

NM_033656.4

p.R2128fs

c.6382_6383fs

1 paper

NM_033656.4

p.R2100R

c.6300A>G