Varaico: Literature-Extracted Genetic Variants

Gene:SMARCD1
Variant:p.G17A

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.G17A
c.50G>C
Surrounding Variants
1 paper
NM_003076.5
p.P12L
c.35C>T
1 paper
NM_003076.5
p.A24E
c.71C>A
1 paper
NM_003076.5
p.V10E
c.29T>A
2 papers
NM_003076.5
p.V10L
c.28G>C
2 papers
NM_003076.5
p.V10L
c.28G>T
1 paper
NM_003076.5
p.A26T
c.76G>A
1 paper
NM_003076.5
p.A26V
c.77C>T
1 paper
NM_003076.5
p.A27insFs
c.80dupC
1 paper
NM_003076.5
p.A27fs
c.79_80fs
1 paper
NM_003076.5
p.A27S
c.79G>T
1 paper
NM_003076.5
p.A27V
c.80C>T
1 paper
NM_003076.5
p.G6D
c.17G>A
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