Varaico: Literature-Extracted Genetic Variants

Gene:SMARCD2
Variant:p.D346G

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.D346G
c.1037A>G
Surrounding Variants
1 paper
NM_001098426.2
p.H341_N342delFs
c.1022_1025del4
1 paper
NM_001098426.2
p.H341fs
c.1021_1022fs
1 paper
NM_001098426.2
p.N354S
c.1061A>G
1 paper
NM_001098426.2
p.R357C
c.1069C>T
2 papers
NM_001098426.2
p.R357P
c.1070G>C
1 paper
NM_001098426.2
p.Q333R
c.998A>G
1 paper
NM_001098426.2
p.M332T
c.995T>C
2 papers
NM_001098426.2
p.Q361fs
c.1081_1082fs
2 papers
NM_001098426.2
p.Q361delFs
c.1081delG
1 paper
NM_001098426.2
p.T327T
c.981G>A
1 paper
NM_001098426.2
p.H324Q
c.972C>G
1 paper
NM_001098426.2
p.H324Q
c.972C>A
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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."