Varaico: Literature-Extracted Genetic Variants

Gene:SMARCD1
Variant:p.Y49*

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
1 paper
NM_003076.5
p.Y49*
c.147C>G
Surrounding Variants
1 paper
NM_003076.5
p.R50R
c.150C>T
1 paper
NM_003076.5
p.L48L
c.144G>A
2 papers
NM_003076.5
p.L48V
c.142C>G
1 paper
NM_003076.5
p.P52S
c.154C>T
1 paper
NM_003076.5
p.G47W
c.139G>T
1 paper
NM_003076.5
p.P52P
c.156G>C
1 paper
NM_003076.5
p.M53I
c.159G>A
1 paper
NM_003076.5
p.M53I
c.159G>C
1 paper
NM_003076.5
p.M53I
c.159G>T
1 paper
NM_003076.5
p.P44P
c.132G>A
1 paper
NM_003076.5
p.A43T
c.127G>A
1 paper
NM_003076.5
p.P42P
c.126G>T
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