Varaico: Literature-Extracted Genetic Variants

Gene:SMARCD1
Variant:p.D97H

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.D97H
c.289G>C
Surrounding Variants
1 paper
NM_003076.5
p.R100G
c.298C>G
1 paper
NM_003076.5
p.K101M
c.302A>T
1 paper
NM_003076.5
p.P103insFs
c.308_309ins4
1 paper
NM_003076.5
p.P103L
c.308C>T
1 paper
NM_003076.5
p.G90S
c.268G>A
1 paper
NM_003076.5
p.A104T
c.310G>A
1 paper
NM_003076.5
p.G90R
c.268G>C
1 paper
NM_003076.5
p.A104fs
c.310_311fs
1 paper
NM_003076.5
p.V87L
c.259G>C
1 paper
NM_003076.5
p.N84fs
c.250_251fs
1 paper
NM_003076.5
p.G82delFs
c.244delG
2 papers
NM_003076.5
p.Q112H
c.336G>C
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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."