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.Q83E

c.247C>G

Surrounding Variants

1 paper

NM_033656.4

p.Q80*

c.238C>T

1 paper

NM_033656.4

p.S102Y

c.305C>A

1 paper

NM_033656.4

p.R108K

c.323G>A

1 paper

NM_033656.4

p.R113G

c.337C>G

1 paper

NM_033656.4

p.L112delFs

c.335_336delTA

1 paper

NM_033656.4

p.S126_A127delFs

c.378_379delCA

1 paper

NM_033656.4

p.P140Q

c.419C>A

1 paper

NM_033656.4

p.V141V

c.423G>T

1 paper

NM_033656.4

p.Y143C

c.428A>G

1 paper

NM_033656.4

p.S145A

c.433T>G

1 paper

NM_033656.4

p.Y143_S145del3

c.427_434del9

1 paper

NM_033656.4

p.E151D

c.453G>T