Varaico: Literature-Extracted Genetic Variants

Gene:TSC1
Variant:p.E663*

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
2 papers
NM_000368.5
p.E663*
c.1987G>T
Surrounding Variants
1 paper
NM_000368.5
p.E663fs
c.1987_1988fs
1 paper
NM_000368.5
p.E663delFs
c.1987delC
2 papers
NM_000368.5
p.H660_K662delFs
c.1978_1984del7
1 paper
NM_000368.5
p.A657_S661del5
c.1969_1982del15
1 paper
NM_000368.5
p.S661S
c.1983C>T
1 paper
NM_000368.5
p.S661delFs
c.1982delC
1 paper
NM_000368.5
p.S661fs
c.1981_1982fs
1 paper
NM_000368.5
p.H660fs
c.1978_1979fs
1 paper
NM_000368.5
p.N665_K666insFs
c.1995_1996insGA
1 paper
NM_000368.5
p.H660fs
c.1978_1979fs
2 papers
NM_000368.5
p.K666*
c.1996A>T
2 papers
NM_000368.5
p.K666fs
c.1996_1997fs
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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."