Varaico: Literature-Extracted Genetic Variants

Gene:TSC1
Variant:p.G595fs

TSC1

1,786 papers

RefSeq Summary

This gene is a tumor suppressor gene that encodes the growth inhibitory protein hamartin. The encoded protein interacts with and stabilizes the GTPase activating protein tuberin. This hamartin-tuberin...

Pfam Domains

Hamartinaa 7–71UCSCHamartin protein
Hamartinaa 7–719UCSCHamartin protein

Gene Aliases

HGNC Name

TSC complex subunit 1

HGNC Alias Symbols

KIAA0243; LAM; hamartin

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000368.5
p.G595fs
c.1783_1784fs
Surrounding Variants
1 paper
NM_000368.5
p.G595delFs
c.1784delC
1 paper
NM_000368.5
p.F596I
c.1786T>A
1 paper
NM_000368.5
p.F596fs
c.1786_1787fs
1 paper
NM_000368.5
p.R593_G595del3
c.1777_1784del9
1 paper
NM_000368.5
p.T582_G595del14
c.1744_1784del42
1 paper
NM_000368.5
p.T592_G595delFs
c.1774_1783del10
1 paper
NM_000368.5
p.V594_F596delFs
c.1782_1786del5
2 papers
NM_000368.5
p.V594delFs
c.1781_1782delCA
1 paper
NM_000368.5
p.G595fs
c.1783_1784fs
1 paper
NM_000368.5
p.F596fs
c.1786_1787fs
1 paper
NM_000368.5
p.V594fs
c.1780_1781fs
2 papers
NM_000368.5
p.V594delFs
c.1781delA
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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."