Varaico: Literature-Extracted Genetic Variants

Gene:SMARCD1
Variant:p.R303*

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
2 papers
NM_003076.5
p.R303*
c.907C>T
Surrounding Variants
1 paper
NM_003076.5
p.R303P
c.908G>C
1 paper
NM_003076.5
p.A302T
c.904G>A
1 paper
NM_003076.5
p.R300C
c.898C>T
1 paper
NM_003076.5
p.H308_T309ins4
c.922_926ins12
1 paper
NM_003076.5
p.H308Y
c.922C>T
1 paper
NM_003076.5
p.Q310R
c.929A>G
1 paper
NM_003076.5
p.T311N
c.932C>A
1 paper
NM_003076.5
p.P293L
c.878C>T
1 paper
NM_003076.5
p.P313A
c.937C>G
1 paper
NM_003076.5
p.P293S
c.877C>T
1 paper
NM_003076.5
p.I315M
c.945C>G
1 paper
NM_003076.5
p.K327R
c.980A>G
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