Varaico: Literature-Extracted Genetic Variants

Gene:SMARCD2
Variant:p.R177W

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.R177W
c.529C>T
Surrounding Variants
3 papers
NM_001098426.2
p.M178L
c.532A>T
1 paper
NM_001098426.2
p.M178V
c.532A>G
3 papers
NM_001098426.2
p.M178L
c.532A>C
1 paper
NM_001098426.2
p.E179A
c.536A>C
1 paper
NM_001098426.2
p.Q171H
c.513G>T
1 paper
NM_001098426.2
p.Q171H
c.513G>C
2 papers
NM_001098426.2
p.Q171*
c.511C>T
1 paper
NM_001098426.2
p.D170_Q171insFs
c.510_511insA
1 paper
NM_001098426.2
p.D170N
c.508G>A
3 papers
NM_001098426.2
p.R167W
c.499C>T
1 paper
NM_001098426.2
p.E166Q
c.496G>C
1 paper
NM_001098426.2
p.A164G
c.491C>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."