Varaico: Literature-Extracted Genetic Variants

Gene:SMC3
Variant:p.Q412*

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.Q412*
c.1234C>T
Surrounding Variants
1 paper
NM_005445.4
p.Q412H
c.1236G>C
1 paper
NM_005445.4
p.Q412H
c.1236G>T
1 paper
NM_005445.4
p.A414V
c.1241C>T
1 paper
NM_005445.4
p.D408Fs
c.1224delinsCAFs
1 paper
NM_005445.4
p.D403D
c.1209T>C
1 paper
NM_005445.4
p.D403delFs
c.1209delT
1 paper
NM_005445.4
p.D403_Q404delins
c.1208_1211delinsGTTTCGTTATGGG
1 paper
NM_005445.4
p.L402fs
c.1204_1205fs
1 paper
NM_005445.4
p.D422A
c.1265A>C
1 paper
NM_005445.4
p.S401Y
c.1202C>A
1 paper
NM_005445.4
p.T423I
c.1268C>T
2 papers
NM_005445.4
p.K400_S401del1
c.1200_1202delGTC
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."