Varaico: Literature-Extracted Genetic Variants

Gene:SMC3
Variant:p.R381*

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
2 papers
NM_005445.4
p.R381*
c.1141C>T
Surrounding Variants
9 papers
NM_005445.4
p.R381Q
c.1142G>A
1 paper
NM_005445.4
p.R381L
c.1142G>T
1 paper
NM_005445.4
p.S383G
c.1147A>G
1 paper
NM_005445.4
p.K378N
c.1134G>C
1 paper
NM_005445.4
p.K378N
c.1134G>T
1 paper
NM_005445.4
p.G380_Q384del0
c.1138_1152del15
2 papers
NM_005445.4
p.K378E
c.1132A>G
1 paper
NM_005445.4
p.Q384P
c.1151A>C
1 paper
NM_005445.4
p.A377E
c.1130C>A
1 paper
NM_005445.4
p.A377T
c.1129G>A
1 paper
NM_005445.4
p.L375P
c.1124T>C
1 paper
NM_005445.4
p.S387P
c.1159T>C
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