Varaico: Literature-Extracted Genetic Variants

Gene:TSC1
Variant:p.N791_Q792insFs

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.N791_Q792insFs
c.2373_2374insG
Surrounding Variants
4 papers
NM_000368.5
p.Q792*
c.2374C>T
1 paper
NM_000368.5
p.Q792E
c.2374C>G
1 paper
NM_000368.5
p.Y790_N791del2
c.2368_2372del6
2 papers
NM_000368.5
p.Q792R
c.2375A>G
1 paper
NM_000368.5
p.Q792H
c.2376G>T
1 paper
NM_000368.5
p.Q792H
c.2376G>C
2 papers
NM_000368.5
p.Y790*
c.2370C>G
2 papers
NM_000368.5
p.Y790*
c.2370C>A
1 paper
NM_000368.5
p.Y790H
c.2368T>C
1 paper
NM_000368.5
p.S793S
c.2379C>T
1 paper
NM_000368.5
p.E788_F789delFs
c.2362_2366del5
6 papers
NM_000368.5
p.Q794*
c.2380C>T
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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."