Varaico: Literature-Extracted Genetic Variants

Gene:TSC1
Variant:p.Q655*

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
6 papers
NM_000368.5
p.Q655*
c.1963C>T
Surrounding Variants
2 papers
NM_000368.5
p.Q655fs
c.1963_1964fs
2 papers
NM_000368.5
p.Q654fs
c.1960_1961fs
1 paper
NM_000368.5
p.L652_Q654delFs
c.1955_1961del7
1 paper
NM_000368.5
p.Q655_G656insFs
c.1965_1966insT
4 papers
NM_000368.5
p.Q655delFs
c.1964delT
1 paper
NM_000368.5
p.G656*
c.1966G>T
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
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."