Varaico: Literature-Extracted Genetic Variants

Gene:SMARCD2
Variant:p.V395V

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.V395V
c.1185C>T
Surrounding Variants
1 paper
NM_001098426.2
p.D399Y
c.1195G>T
2 papers
NM_001098426.2
p.K402T
c.1205A>C
1 paper
NM_001098426.2
p.K402_T403del1
c.1205_1207delTCT
1 paper
NM_001098426.2
p.V410L
c.1228G>T
1 paper
NM_001098426.2
p.P415P
c.1245A>G
1 paper
NM_001098426.2
p.Q430Q
c.1290G>A
1 paper
NM_001098426.2
p.A434T
c.1300G>A
6 papers
NM_001098426.2
p.S394Splc
c.1181+1G>A
3 papers
NM_001098426.2
p.S394fs
c.1180_1181fs
1 paper
NM_001098426.2
p.V392I
c.1174G>A
1 paper
NM_001098426.2
p.I387N
c.1160T>A
1 paper
NM_001098426.2
p.P386P
c.1158C>G
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."