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.T292I

c.875C>T

Surrounding Variants

1 paper

NM_033656.4

p.G293D

c.878G>A

1 paper

NM_033656.4

p.Y288Y

c.864C>T

1 paper

NM_033656.4

p.L315V

c.943C>G

1 paper

NM_033656.4

p.G335Splc

c.1003+48C>T

2 papers

NM_033656.4

p.L339S

c.1016T>C

1 paper

NM_033656.4

p.L353M

c.1057T>A

1 paper

NM_033656.4

p.A357insFs

c.1069_1070insAC

1 paper

NM_033656.4

p.E359K

c.1075G>A

1 paper

NM_033656.4

p.D372N

c.1114G>A

1 paper

NM_033656.4

p.N378H

c.1132A>C

1 paper

NM_033656.4

p.N378_N379del2

c.1132_1136del6

1 paper

NM_033656.4

p.D389D

c.1167T>C