Varaico: Literature-Extracted Genetic Variants

Gene:TSC1

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
1–12 of 3490 variants
57 papers
NM_000368.5
p.R692*
c.2074C>T
55 papers
NM_000368.5
p.R509*
c.1525C>T
51 papers
NM_000368.5
p.M322T
c.965T>C
49 papers
NM_000368.5
p.R786*
c.2356C>T
41 papers
NM_000368.5
p.R245*
c.733C>T
39 papers
NM_000368.5
p.H732Y
c.2194C>T
36 papers
NM_000368.5
p.R500*
c.1498C>T
33 papers
NM_000368.5
p.Q654E
c.1960C>G
30 papers
NM_000368.5
p.R228*
c.682C>T
26 papers
NM_000368.5
p.A84T
c.250G>A
24 papers
NM_000368.5
p.K587R
c.1760A>G
24 papers
NM_000368.5
p.K630_A631delFs
c.1888_1891del4
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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."