Varaico: Literature-Extracted Genetic Variants

Gene:SMC3
Variant:p.W394*

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.W394*
c.1181G>A
Surrounding Variants
2 papers
NM_005445.4
p.W394*
c.1182G>A
1 paper
NM_005445.4
p.K397insFs
c.1190dupA
1 paper
NM_005445.4
p.K396fs
c.1186_1187fs
2 papers
NM_005445.4
p.D392E
c.1176T>A
2 papers
NM_005445.4
p.D392E
c.1176T>G
17 papers
NM_005445.4
p.D392V
c.1175A>T
1 paper
NM_005445.4
p.D392Y
c.1174G>T
1 paper
NM_005445.4
p.R391K
c.1172G>A
2 papers
NM_005445.4
p.K400_S401del1
c.1200_1202delGTC
1 paper
NM_005445.4
p.S401Y
c.1202C>A
1 paper
NM_005445.4
p.S387P
c.1159T>C
1 paper
NM_005445.4
p.L402fs
c.1204_1205fs
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