Varaico: Literature-Extracted Genetic Variants

Gene:TSC1
Variant:p.I653_Q654insFs

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.I653_Q654insFs
c.1959_1960insGA
Surrounding Variants
2 papers
NM_000368.5
p.I653insFs
c.1958dupT
2 papers
NM_000368.5
p.I653fs
c.1957_1958fs
4 papers
NM_000368.5
p.Q654fs
c.1960_1961fs
8 papers
NM_000368.5
p.Q654*
c.1960C>T
33 papers
NM_000368.5
p.Q654E
c.1960C>G
4 papers
NM_000368.5
p.I653insFs
c.1959dupA
1 paper
NM_000368.5
p.I653delFs
c.1958_1959delTA
1 paper
NM_000368.5
p.L652_Q654Fs
c.1956_1960delinsTCAGGGFs
2 papers
NM_000368.5
p.I653fs
c.1957_1958fs
1 paper
NM_000368.5
p.L652delFs
c.1955_1956delCA
2 papers
NM_000368.5
p.Q654fs
c.1960_1961fs
1 paper
NM_000368.5
p.L652_Q654delFs
c.1955_1961del7
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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."