Varaico: Literature-Extracted Genetic Variants

Gene:SMARCD1

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
1–12 of 209 variants
3 papers
NM_003076.5
p.V278M
c.832G>A
2 papers
NM_003076.5
p.V10L
c.28G>C
2 papers
NM_003076.5
p.V10L
c.28G>T
2 papers
NM_003076.5
p.L48V
c.142C>G
2 papers
NM_003076.5
p.Q112H
c.336G>C
2 papers
NM_003076.5
p.Q112H
c.336G>T
2 papers
NM_003076.5
p.A115V
c.344C>T
2 papers
NM_003076.5
p.V141V
c.423A>G
2 papers
NM_003076.5
p.R183Q
c.548G>A
2 papers
NM_003076.5
p.A262T
c.784G>A
2 papers
NM_003076.5
p.R303*
c.907C>T
2 papers
NM_003076.5
p.R446G
c.1336A>G
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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."