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

5 papers

NM_033656.4

p.S1511P

c.4531T>C

Surrounding Variants

3 papers

NM_033656.4

p.T1480A

c.4438A>G

1 paper

NM_033656.4

p.T1477P

c.4429A>C

1 paper

NM_033656.4

p.S1475F

c.4424C>T

1 paper

NM_033656.4

p.E1529Splc

c.4585+60G>A

1 paper

NM_033656.4

p.V1532M

c.4594G>A

1 paper

NM_033656.4

p.R1558H

c.4673G>A

1 paper

NM_033656.4

p.S1560P

c.4678T>C

1 paper

NM_033656.4

p.G1585Splc

c.4753+73C>T

1 paper

NM_033656.4

p.T1598S

c.4792A>T

1 paper

NM_033656.4

p.T1598S

c.4793C>G

1 paper

NM_033656.4

p.R1599*

c.4795C>T

1 paper

NM_033656.4

p.S1611P

c.4831T>C