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.L1618I

c.4852C>A

Surrounding Variants

1 paper

NM_033656.4

p.S1611P

c.4831T>C

1 paper

NM_033656.4

p.R1630G

c.4888A>G

1 paper

NM_033656.4

p.R1599*

c.4795C>T

1 paper

NM_033656.4

p.T1598S

c.4793C>G

1 paper

NM_033656.4

p.T1598S

c.4792A>T

1 paper

NM_033656.4

p.K1639I

c.4916A>T

1 paper

NM_033656.4

p.K1641fs

c.4921_4922fs

1 paper

NM_033656.4

p.K1641delFs

c.4922delT

1 paper

NM_033656.4

p.V1655V

c.4965C>T

1 paper

NM_033656.4

p.D1695N

c.5083G>A

3 papers

NM_033656.4

p.L1699P

c.5096T>C

1 paper

NM_033656.4

p.H1706Y

c.5116C>T