Varaico: Literature-Extracted Genetic Variants

Gene:SMARCD2
Variant:p.Q147fs

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.Q147fs
c.439_440fs
Surrounding Variants
5 papers
NM_001098426.2
p.R138_P146insFs
c.414_438dup25
1 paper
NM_001098426.2
p.R148*
c.442C>T
1 paper
NM_001098426.2
p.R148Q
c.443G>A
1 paper
NM_001098426.2
p.R148_I149Splc
c.444+1G>A
1 paper
NM_001098426.2
p.K143E
c.427A>G
1 paper
NM_001098426.2
p.A141S
c.421G>T
1 paper
NM_001098426.2
p.R137K
c.410G>A
1 paper
NM_001098426.2
p.I149F
c.445A>T
2 papers
NM_001098426.2
p.R150W
c.448C>T
1 paper
NM_001098426.2
p.P154P
c.462A>C
1 paper
NM_001098426.2
p.S156S
c.468T>G
1 paper
NM_001098426.2
p.A164G
c.491C>G
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