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.K549K

c.1647A>G

Surrounding Variants

1 paper

NM_033656.4

p.T534I

c.1601C>T

1 paper

NM_033656.4

p.Q529Q

c.1587G>A

1 paper

NM_033656.4

p.S525*

c.1574C>G

1 paper

NM_033656.4

p.S525*

c.1574C>A

2 papers

NM_033656.4

p.G517*

c.1549G>T

1 paper

NM_033656.4

p.I554V

c.1660A>G

2 papers

NM_033656.4

p.R565*

c.1693C>T

1 paper

NM_033656.4

p.L592delFs

c.1774_1775delAA

1 paper

NM_033656.4

p.D596N

c.1786G>A

1 paper

NM_033656.4

p.D596A

c.1787A>C

1 paper

NM_033656.4

p.K603_Y604insG

c.1807_1811ins3

1 paper

NM_033656.4

p.D616N

c.1846G>A