Varaico: Literature-Extracted Genetic Variants

Gene:SMARCD3
Variant:p.I143V

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.I143V
c.427A>G
Surrounding Variants
1 paper
NM_001003801.2
p.V141L
c.421G>T
1 paper
NM_001003801.2
p.A146T
c.436G>A
1 paper
NM_001003801.2
p.R140W
c.418C>T
1 paper
NM_001003801.2
p.M137I
c.411G>T
1 paper
NM_001003801.2
p.M137I
c.411G>C
1 paper
NM_001003801.2
p.M137I
c.411G>A
1 paper
NM_001003801.2
p.Q134R
c.401A>G
1 paper
NM_001003801.2
p.A127A
c.381A>G
1 paper
NM_001003801.2
p.P117P
c.351C>T
1 paper
NM_001003801.2
p.L115L
c.345G>T
1 paper
NM_001003801.2
p.R113Q
c.338G>A
1 paper
NM_001003801.2
p.Q153H
c.459A>T
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