Varaico: Literature-Extracted Genetic Variants

Gene:TSC1
Variant:p.T541P

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_001162427.2
p.T541P
c.1621A>C
Surrounding Variants
1 paper
NM_000368.5
p.T592fs
c.1774_1775fs
1 paper
NM_000368.5
p.P591_T592insFs
c.1773_1774dupGA
1 paper
NM_000368.5
p.P590_T592delFs
c.1769_1775del7
5 papers
NM_000368.5
p.P591L
c.1772C>T
2 papers
NM_000368.5
p.P591fs
c.1771_1772fs
3 papers
NM_000368.5
p.P591S
c.1771C>T
2 papers
NM_000368.5
p.P590delFs
c.1770delA
1 paper
NM_000368.5
p.R593*
c.1777A>T
2 papers
NM_000368.5
p.T592delFs
c.1776delC
3 papers
NM_000368.5
p.R593fs
c.1777_1778fs
1 paper
NM_000368.5
p.P590fs
c.1768_1769fs
1 paper
NM_000368.5
p.P583_P590Fs
c.1748_1770delinsGFs
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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."