Varaico: Literature-Extracted Genetic Variants

Gene:SMC3
Variant:p.W216*

SMC3

528 papers

RefSeq Summary

This gene belongs to the SMC3 subfamily of SMC proteins. The encoded protein occurs in certain cell types as either an intracellular, nuclear protein or a secreted protein. The nuclear form, known as ...

Pfam Domains

SMC_Naa 2–1197UCSCRecF/RecN/SMC N terminal domain
SMC_hingeaa 529–643UCSCSMC proteins Flexible Hinge Domain

Gene Aliases

HGNC Name

structural maintenance of chromosomes 3

HGNC Previous Symbol

CSPG6

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_005445.4
p.W216*
c.648G>A
Surrounding Variants
2 papers
NM_005445.4
p.W216*
c.647G>A
5 papers
NM_005445.4
p.W216G
c.646T>G
1 paper
NM_005445.4
p.Q214L
c.641A>T
2 papers
NM_005445.4
p.Q214*
c.640C>T
1 paper
NM_005445.4
p.Y213C
c.638A>G
2 papers
NM_005445.4
p.Q212L
c.635A>T
3 papers
NM_005445.4
p.R221*
c.661C>T
1 paper
NM_005445.4
p.Q212E
c.634C>G
1 paper
NM_005445.4
p.R221Q
c.662G>A
17 papers
NM_005445.4
p.R221P
c.662G>C
1 paper
NM_005445.4
p.A211V
c.632C>T
1 paper
NM_005445.4
p.L210P
c.629T>C
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."