Varaico: Literature-Extracted Genetic Variants

Gene:SMC3
Variant:p.K113N

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
9 papers
NM_005445.4
p.K113N
c.339G>C
Surrounding Variants
9 papers
NM_005445.4
p.K113N
c.339G>T
1 paper
NM_005445.4
p.K113T
c.338A>C
14 papers
NM_005445.4
p.K113R
c.338A>G
1 paper
NM_005445.4
p.K114E
c.340A>G
9 papers
NM_005445.4
p.K113Q
c.337A>C
1 paper
NM_005445.4
p.K114N
c.342G>C
1 paper
NM_005445.4
p.K114N
c.342G>T
2 papers
NM_005445.4
p.T117Splc
c.350+1G>A
4 papers
NM_005445.4
p.K106R
c.317A>G
3 papers
NM_005445.4
p.K106Q
c.316A>C
3 papers
NM_005445.4
p.K105R
c.314A>G
1 paper
NM_005445.4
p.K105fs
c.313_314fs
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