Varaico: Literature-Extracted Genetic Variants

Gene:SMARCD2
Variant:p.R493R

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.R493R
c.1479A>G
Surrounding Variants
1 paper
NM_001098426.2
p.E492del1
c.1474_1475delCTC
1 paper
NM_001098426.2
p.Y498H
c.1492T>C
1 paper
NM_001098426.2
p.D484N
c.1450G>A
1 paper
NM_001098426.2
p.T483S
c.1448C>G
1 paper
NM_001098426.2
p.V507A
c.1520T>C
1 paper
NM_001098426.2
p.G508A
c.1523G>C
1 paper
NM_001098426.2
p.R519M
c.1556G>T
2 papers
NM_001098426.2
p.R477*
c.1429C>T
1 paper
NM_001098426.2
p.R476H
c.1427G>A
1 paper
NM_001098426.2
p.R529G
c.1585C>G
1 paper
NM_001098426.2
p.I444T
c.1331T>C
1 paper
NM_001098426.2
p.A434T
c.1300G>A
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