Varaico: Literature-Extracted Genetic Variants

Gene:BRD7
Variant:p.L240V

BRD7

101 papers

RefSeq Summary

This gene encodes a protein which is a member of the bromodomain-containing protein family. The product of this gene has been identified as a component of one form of the SWI/SNF chromatin remodeling ...

Pfam Domains

Bromodomainaa 140–223UCSCBromodomain
DUF3512aa 298–485UCSCDomain of unknown function (DUF3512)

Gene Aliases

HGNC Name

bromodomain containing 7

HGNC Alias Symbols

CELTIX1; BP75; SMARCI1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_013263.5
p.L240V
c.718C>G
Surrounding Variants
1 paper
NM_013263.5
p.S263A
c.787T>G
5 papers
NM_013263.5
p.E277fs
c.829_830fs
1 paper
NM_013263.5
p.E277G
c.830A>G
5 papers
NM_013263.5
p.E277fs
c.829_830fs
9 papers
NM_013263.5
p.E277delFs
c.830_831delCT
1 paper
NM_013263.5
p.D278delFs
c.832_833delTC
1 paper
NM_013263.5
p.D278del1
c.832_833delGTC
3 papers
NM_013263.5
p.A282A
c.846C>T
1 paper
NM_013263.5
p.E283K
c.847G>A
2 papers
NM_013263.5
p.S291G
c.871A>G
1 paper
NM_013263.5
p.K296N
c.888G>T
1 paper
NM_013263.5
p.K296N
c.888G>C
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