Varaico: Literature-Extracted Genetic Variants

Gene:TSC1
Variant:p.D658E

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
3 papers
NM_000368.5
p.D658E
c.1974C>A
Surrounding Variants
1 paper
NM_000368.5
p.D658D
c.1974C>T
3 papers
NM_000368.5
p.D658E
c.1974C>G
2 papers
NM_000368.5
p.A659T
c.1975G>A
1 paper
NM_000368.5
p.Q654_D658delFs
c.1961_1974del14
4 papers
NM_000368.5
p.A659V
c.1976C>T
4 papers
NM_000368.5
p.A659A
c.1977G>A
1 paper
NM_000368.5
p.H660fs
c.1978_1979fs
2 papers
NM_000368.5
p.A657T
c.1969G>A
1 paper
NM_000368.5
p.H660fs
c.1978_1979fs
1 paper
NM_000368.5
p.S661fs
c.1981_1982fs
1 paper
NM_000368.5
p.G656*
c.1966G>T
1 paper
NM_000368.5
p.Q655_G656insFs
c.1965_1966insT
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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."