Varaico: Literature-Extracted Genetic Variants

Gene:TSC1
Variant:p.Q710*

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.Q710*
c.2128C>T
Surrounding Variants
1 paper
NM_000368.5
p.Q710fs
c.2128_2129fs
1 paper
NM_000368.5
p.R709delFs
c.2127delC
1 paper
NM_000368.5
p.R709fs
c.2125_2126fs
1 paper
NM_000368.5
p.Q711fs
c.2131_2132fs
1 paper
NM_000368.5
p.Q711*
c.2131C>T
1 paper
NM_000368.5
p.F707_Q711Fs
c.2121_2131delinsAFs
5 papers
NM_000368.5
p.Q711R
c.2132A>G
1 paper
NM_000368.5
p.Q711insFs
c.2132dupA
1 paper
NM_000368.5
p.H712fs
c.2134_2135fs
1 paper
NM_000368.5
p.F707_K708insFs
c.2121_2122insT
1 paper
NM_000368.5
p.F707delFs
c.2121delA
1 paper
NM_000368.5
p.Q711_H712delFs
c.2133_2134delGC
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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."