Varaico: Literature-Extracted Genetic Variants

Gene:SMC3
Variant:p.Q146*

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.Q146*
c.436C>T
Surrounding Variants
1 paper
NM_005445.4
p.N145K
c.435C>A
1 paper
NM_005445.4
p.N145K
c.435C>G
1 paper
NM_005445.4
p.M147L
c.439A>C
1 paper
NM_005445.4
p.M147L
c.439A>T
4 papers
NM_005445.4
p.K143_I144Splc
c.430-1G>A
3 papers
NM_005445.4
p.K143_I144Splc
c.430-1G>C
5 papers
NM_005445.4
p.K143_I144Splc
c.430-1G>T
1 paper
NM_005445.4
p.K143_I144Splc
c.430-2A>G
1 paper
NM_005445.4
p.A150T
c.448G>A
1 paper
NM_005445.4
p.P151T
c.451C>A
1 paper
NM_005445.4
p.D152V
c.455A>T
2 papers
NM_005445.4
p.Q154insFs
c.461dupA
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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."