Varaico: Literature-Extracted Genetic Variants

Gene:SMC3
Variant:p.E688*

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.E688*
c.2062G>T
Surrounding Variants
3 papers
NM_005445.4
p.E688Q
c.2062G>C
2 papers
NM_005445.4
p.E688V
c.2063A>T
1 paper
NM_005445.4
p.G690S
c.2068G>A
2 papers
NM_005445.4
p.E691K
c.2071G>A
1 paper
NM_005445.4
p.K684I
c.2051A>T
1 paper
NM_005445.4
p.E693*
c.2077G>T
1 paper
NM_005445.4
p.E693V
c.2078A>T
1 paper
NM_005445.4
p.D681H
c.2041G>C
1 paper
NM_005445.4
p.L696P
c.2087T>C
4 papers
NM_005445.4
p.N697H
c.2089A>C
1 paper
NM_005445.4
p.E698delFs
c.2093delA
2 papers
NM_005445.4
p.L676fs
c.2026_2027fs
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