Varaico: Literature-Extracted Genetic Variants

Gene:TSC1
Variant:p.E730delFs

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.E730delFs
c.2188delC
Surrounding Variants
1 paper
NM_000368.5
p.E730*
c.2188G>T
1 paper
NM_000368.5
p.E730fs
c.2188_2189fs
5 papers
NM_000368.5
p.E731*
c.2191G>T
1 paper
NM_000368.5
p.E731fs
c.2191_2192fs
1 paper
NM_000368.5
p.E731delFs
c.2191delC
1 paper
NM_000368.5
p.L729M
c.2185C>A
1 paper
NM_000368.5
p.A728fs
c.2182_2183fs
39 papers
NM_000368.5
p.H732Y
c.2194C>T
1 paper
NM_000368.5
p.A728insFs
c.2182dupG
3 papers
NM_000368.5
p.H732R
c.2195A>G
1 paper
NM_000368.5
p.A728T
c.2182G>A
1 paper
NM_000368.5
p.N733fs
c.2197_2198fs
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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."