Varaico: Literature-Extracted Genetic Variants

Gene:SMARCD2
Variant:p.G134Splc

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
5 papers
NM_001098426.2
p.G134Splc
c.401+2T>C
Surrounding Variants
1 paper
NM_001098426.2
p.R133Q
c.398G>A
1 paper
NM_001098426.2
p.R133W
c.397C>T
1 paper
NM_001098426.2
p.Q131Q
c.393G>A
1 paper
NM_001098426.2
p.P126L
c.377C>T
1 paper
NM_001098426.2
p.P122R
c.365C>G
1 paper
NM_001098426.2
p.F115L
c.345C>G
1 paper
NM_001098426.2
p.P114L
c.341C>T
1 paper
NM_001098426.2
p.P114S
c.340C>T
1 paper
NM_001098426.2
p.P109S
c.325C>T
1 paper
NM_001098426.2
p.M107R
c.320T>G
1 paper
NM_001098426.2
p.R104L
c.311G>T
1 paper
NM_001098426.2
p.R104*
c.310C>T
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."