Varaico: Literature-Extracted Genetic Variants

Gene:SMARCD2
Variant:p.R73fs

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
3 papers
NM_001098426.2
p.R73fs
c.217_218fs
Surrounding Variants
5 papers
NM_001098426.2
p.R73*
c.217C>T
1 paper
NM_001098426.2
p.P74P
c.222T>C
1 paper
NM_001098426.2
p.N80Y
c.238A>T
1 paper
NM_001098426.2
p.M82I
c.246G>T
1 paper
NM_001098426.2
p.M82I
c.246G>C
1 paper
NM_001098426.2
p.M82I
c.246G>A
1 paper
NM_001098426.2
p.Q88R
c.263A>G
1 paper
NM_001098426.2
p.G90R
c.268G>C
1 paper
NM_001098426.2
p.G90R
c.268G>A
2 papers
NM_001098426.2
p.G98D
c.293G>A
1 paper
NM_001098426.2
p.R104*
c.310C>T
1 paper
NM_001098426.2
p.R104L
c.311G>T
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