Varaico: Literature-Extracted Genetic Variants

Gene:SMC3
Variant:p.R675*

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.R675*
c.2023C>T
Surrounding Variants
1 paper
NM_005445.4
p.R675ins1
c.2024_2025insGAG
1 paper
NM_005445.4
p.R675ins3
c.2024_2025ins9
1 paper
NM_005445.4
p.R675ins3
c.2023_2024ins9
1 paper
NM_005445.4
p.R675ins2
c.2024_2025ins6
2 papers
NM_005445.4
p.L676fs
c.2026_2027fs
1 paper
NM_005445.4
p.R672R
c.2016G>A
2 papers
NM_005445.4
p.K673_K684delFs
c.2019_2050del32
1 paper
NM_005445.4
p.T671K
c.2012C>A
1 paper
NM_005445.4
p.D670Y
c.2008G>T
1 paper
NM_005445.4
p.D681H
c.2041G>C
2 papers
NM_005445.4
p.Y669H
c.2005T>C
1 paper
NM_005445.4
p.Y669D
c.2005T>G
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