Varaico: Literature-Extracted Genetic Variants

Gene:SMC3
Variant:p.E584*

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.E584*
c.1750G>T
Surrounding Variants
1 paper
NM_005445.4
p.E584K
c.1750G>A
1 paper
NM_005445.4
p.T586_K592delFs
c.1757_1776del20
1 paper
NM_005445.4
p.P582_T598ins5
c.1746_1793dup48
1 paper
NM_005445.4
p.L581P
c.1742T>C
2 papers
NM_005445.4
p.N591Y
c.1771A>T
1 paper
NM_005445.4
p.N577_T586del10
c.1729_1757del30
1 paper
NM_005445.4
p.R596_D597ins10
c.1786_1790ins30
16 papers
NM_005445.4
p.K571R
c.1712A>G
1 paper
NM_005445.4
p.D597Y
c.1789G>T
1 paper
NM_005445.4
p.K571_E575delFs
c.1711_1723del13
1 paper
NM_005445.4
p.T598_A599ins6
c.1792_1796ins18
2 papers
NM_005445.4
p.Y600C
c.1799A>G
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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."