Varaico: Literature-Extracted Genetic Variants

Gene:TSC1
Variant:p.L729M

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.L729M
c.2185C>A
Surrounding Variants
1 paper
NM_000368.5
p.A728fs
c.2182_2183fs
1 paper
NM_000368.5
p.A728insFs
c.2182dupG
1 paper
NM_000368.5
p.E730*
c.2188G>T
1 paper
NM_000368.5
p.A728T
c.2182G>A
1 paper
NM_000368.5
p.E730fs
c.2188_2189fs
2 papers
NM_000368.5
p.A726_A727insFs
c.2177_2180dup4
1 paper
NM_000368.5
p.E730delFs
c.2188delC
5 papers
NM_000368.5
p.E731*
c.2191G>T
1 paper
NM_000368.5
p.A726delFs
c.2177_2178delTG
1 paper
NM_000368.5
p.E731fs
c.2191_2192fs
1 paper
NM_000368.5
p.E731delFs
c.2191delC
7 papers
NM_000368.5
p.A726E
c.2177C>A
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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."