Varaico: Literature-Extracted Genetic Variants

Gene:SMARCD3
Variant:p.Q39H

SMARCD3

47 papers

RefSeq Summary

The protein encoded by this gene is a member of the SWI/SNF family of proteins, whose members display helicase and ATPase activities and which are thought to regulate transcription of certain genes by...

Pfam Domains

SWIBaa 261–333UCSCSWIB/MDM2 domain

Gene Aliases

HGNC Name

SWI/SNF related BAF chromatin remodeling complex subunit D3

HGNC Alias Symbols

BAF60C; Rsc6p; CRACD3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001003801.2
p.Q39H
c.117G>C
Surrounding Variants
1 paper
NM_001003801.2
p.H38Y
c.112C>T
1 paper
NM_001003801.2
p.P37P
c.111C>T
1 paper
NM_001003801.2
p.A34V
c.101C>T
1 paper
NM_001003801.2
p.G47C
c.139G>T
1 paper
NM_001003801.2
p.S48P
c.142T>C
1 paper
NM_001003801.2
p.M30V
c.88A>G
1 paper
NM_001003801.2
p.Y50Y
c.150C>T
1 paper
NM_001003801.2
p.S53R
c.159C>G
1 paper
NM_001003801.2
p.R71R
c.213A>G
1 paper
NM_001003801.2
p.A73V
c.218C>T
1 paper
NM_001003801.2
p.P75T
c.223C>A
1 paper
NM_001003801.2
p.P75L
c.224C>T
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