Varaico: Literature-Extracted Genetic Variants

Gene:SMARCD1
Variant:p.R163G

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.R163G
c.487A>G
Surrounding Variants
1 paper
NM_003076.5
p.E170K
c.508G>A
1 paper
NM_003076.5
p.R155G
c.463A>G
1 paper
NM_003076.5
p.E154D
c.462A>C
1 paper
NM_003076.5
p.L172*
c.515T>A
1 paper
NM_003076.5
p.R174C
c.520C>T
1 paper
NM_003076.5
p.L150I
c.448C>A
1 paper
NM_003076.5
p.K177E
c.529A>G
1 paper
NM_003076.5
p.D149N
c.445G>A
1 paper
NM_003076.5
p.A146T
c.436G>A
1 paper
NM_003076.5
p.Q145P
c.434A>C
2 papers
NM_003076.5
p.V141V
c.423A>G
1 paper
NM_003076.5
p.V141L
c.421G>T
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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."