Varaico: Literature-Extracted Genetic Variants

Gene:SMARCD1
Variant:p.R39Q

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.R39Q
c.116G>A
Surrounding Variants
1 paper
NM_003076.5
p.P37L
c.110C>T
1 paper
NM_003076.5
p.G41V
c.122G>T
1 paper
NM_003076.5
p.P42L
c.125C>T
1 paper
NM_003076.5
p.P42P
c.126G>T
1 paper
NM_003076.5
p.A43T
c.127G>A
1 paper
NM_003076.5
p.P44P
c.132G>A
1 paper
NM_003076.5
p.G47W
c.139G>T
1 paper
NM_003076.5
p.G31D
c.92G>A
2 papers
NM_003076.5
p.L48V
c.142C>G
1 paper
NM_003076.5
p.P30Q
c.89C>A
1 paper
NM_003076.5
p.P30L
c.89C>T
1 paper
NM_003076.5
p.L48L
c.144G>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."