Varaico: Literature-Extracted Genetic Variants

Gene:TSC1
Variant:p.E636delFs

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
8 papers
NM_000368.5
p.E636delFs
c.1907_1908delCT
Surrounding Variants
1 paper
NM_000368.5
p.E637fs
c.1909_1910fs
10 papers
NM_000368.5
p.E636fs
c.1906_1907fs
1 paper
NM_000368.5
p.E637delFs
c.1909delC
1 paper
NM_000368.5
p.D638fs
c.1912_1913fs
1 paper
NM_000368.5
p.E636*
c.1906G>T
1 paper
NM_000368.5
p.D638Fs
c.1912delinsCTTGTTCAGCCCCTACTFs
1 paper
NM_000368.5
p.D638N
c.1912G>A
1 paper
NM_000368.5
p.E637delFs
c.1911delT
4 papers
NM_000368.5
p.E636fs
c.1906_1907fs
8 papers
NM_000368.5
p.T635delFs
c.1903_1904delGT
1 paper
NM_000368.5
p.N634_T635del2
c.1900_1904del6
1 paper
NM_000368.5
p.L628_T635delFs
c.1884_1905del22
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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."