Varaico: Literature-Extracted Genetic Variants

Gene:SMARCD1
Variant:p.R446G

SMARCD1

120 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 293–365UCSCSWIB/MDM2 domain

Gene Aliases

HGNC Name

SWI/SNF related BAF chromatin remodeling complex subunit D1

HGNC Alias Symbols

BAF60A; Rsc6p; CRACD1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_003076.5
p.R446G
c.1336A>G
Surrounding Variants
1 paper
NM_003076.5
p.Q449*
c.1345C>T
2 papers
NM_003076.5
p.N453S
c.1358A>G
1 paper
NM_003076.5
p.Q437*
c.1309C>T
1 paper
NM_003076.5
p.W455*
c.1364G>A
1 paper
NM_003076.5
p.W455*
c.1365G>A
1 paper
NM_003076.5
p.L456V
c.1366C>G
1 paper
NM_003076.5
p.Q457H
c.1371G>C
1 paper
NM_003076.5
p.Q457H
c.1371G>T
1 paper
NM_003076.5
p.T430I
c.1289C>T
1 paper
NM_003076.5
p.E429A
c.1286A>C
1 paper
NM_003076.5
p.E429*
c.1285G>T
1 paper
NM_003076.5
p.I428V
c.1282A>G
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