Varaico: Literature-Extracted Genetic Variants

Gene:SMARCD2
Variant:p.R43W

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.R43W
c.127C>T
Surrounding Variants
1 paper
NM_001098426.2
p.G44E
c.131G>A
1 paper
NM_001098426.2
p.P45L
c.134C>T
1 paper
NM_001098426.2
p.P40S
c.118C>T
1 paper
NM_001098426.2
p.G39R
c.115G>A
1 paper
NM_001098426.2
p.P47S
c.139C>T
1 paper
NM_001098426.2
p.P47L
c.140C>T
1 paper
NM_001098426.2
p.P47R
c.140C>G
1 paper
NM_001098426.2
p.P38L
c.113C>T
1 paper
NM_001098426.2
p.P38S
c.112C>T
1 paper
NM_001098426.2
p.G50G
c.150C>T
1 paper
NM_001098426.2
p.G52G
c.156G>C
1 paper
NM_001098426.2
p.G53G
c.159C>G
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."