Varaico: Literature-Extracted Genetic Variants

Gene:SMARCD3
Variant:p.L252V

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.L252V
c.754C>G
Surrounding Variants
1 paper
NM_001003801.2
p.L253_L254delins
c.759_760delinsGT
1 paper
NM_001003801.2
p.L246P
c.737T>C
1 paper
NM_001003801.2
p.L246M
c.736C>A
1 paper
NM_001003801.2
p.G244V
c.731G>T
1 paper
NM_001003801.2
p.V240V
c.720G>A
1 paper
NM_001003801.2
p.G237S
c.709G>A
1 paper
NM_001003801.2
p.Q233P
c.698A>C
1 paper
NM_001003801.2
p.Q259_P260Splc
c.778-9T>C
1 paper
NM_001003801.2
p.H222R
c.665A>G
1 paper
NM_001003801.2
p.N221T
c.662A>C
1 paper
NM_001003801.2
p.Q262R
c.785A>G
1 paper
NM_001003801.2
p.F263V
c.787T>G
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