Varaico: Literature-Extracted Genetic Variants

Gene:SMC3
Variant:p.R99*

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
3 papers
NM_005445.4
p.R99*
c.295C>T
Surrounding Variants
2 papers
NM_005445.4
p.S97*
c.290C>A
2 papers
NM_005445.4
p.S97*
c.290C>G
1 paper
NM_005445.4
p.V101I
c.301G>A
1 paper
NM_005445.4
p.E95K
c.283G>A
1 paper
NM_005445.4
p.E94A
c.281A>C
1 paper
NM_005445.4
p.K105fs
c.313_314fs
2 papers
NM_005445.4
p.K105Q
c.313A>C
3 papers
NM_005445.4
p.K105R
c.314A>G
3 papers
NM_005445.4
p.K106Q
c.316A>C
1 paper
NM_005445.4
p.D92N
c.274G>A
4 papers
NM_005445.4
p.K106R
c.317A>G
1 paper
NM_005445.4
p.P90_I91Splc
c.271-6T>G
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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."