Varaico: Literature-Extracted Genetic Variants

Gene:SMARCD2
Variant:p.A27V

SMARCD2

64 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 234–306UCSCSWIB/MDM2 domain

Gene Aliases

HGNC Name

SWI/SNF related BAF chromatin remodeling complex subunit D2

HGNC Alias Symbols

BAF60B; Rsc6p; CRACD2; PRO2451

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001098426.2
p.A27V
c.80C>T
Surrounding Variants
1 paper
NM_001098426.2
p.A27A
c.81G>A
1 paper
NM_001098426.2
p.A22insFs
c.66dupT
1 paper
NM_001098426.2
p.P31delFs
c.93delG
3 papers
NM_001098426.2
p.A32fs
c.94_95fs
1 paper
NM_001098426.2
p.A22T
c.64G>A
1 paper
NM_001098426.2
p.V21V
c.63G>T
1 paper
NM_001098426.2
p.A20T
c.58G>A
1 paper
NM_001098426.2
p.G19S
c.55G>A
1 paper
NM_001098426.2
p.G17A
c.50G>C
1 paper
NM_001098426.2
p.P38S
c.112C>T
1 paper
NM_001098426.2
p.P38L
c.113C>T
1 paper
NM_001098426.2
p.G39R
c.115G>A
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