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.I14M

c.42C>G

Surrounding Variants

1 paper

NM_033656.4

p.I14I

c.42C>T

1 paper

NM_033656.4

p.I14I

c.42C>A

1 paper

NM_033656.4

p.A7G

c.20C>G

1 paper

NM_033656.4

p.S6Y

c.17C>A

1 paper

NM_033656.4

p.E3G

c.8A>G

1 paper

NM_033656.4

p.E3A

c.8A>C

1 paper

NM_033656.4

p.M1insFs

c.3dupG

1 paper

NM_033656.4

p.M1insFs

c.2dupT

1 paper

NM_033656.4

p.M1delFs

c.2delA

1 paper

NM_033656.4

p.M1T

c.2T>C

1 paper

NM_033656.4

p.L21I

c.61C>A

1 paper

NM_033656.4

p.L21P

c.62T>C