Varaico: Literature-Extracted Genetic Variants

Gene:TSC1
Variant:p.S237insFs

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.S237insFs
c.709dupT
Surrounding Variants
1 paper
NM_000368.5
p.S237A
c.709T>G
1 paper
NM_000368.5
p.S237fs
c.709_710fs
1 paper
NM_000368.5
p.K238*
c.712A>T
1 paper
NM_000368.5
p.S237insFs
c.710dupC
1 paper
NM_000368.5
p.G236fs
c.706_707fs
2 papers
NM_000368.5
p.G236delFs
c.707delC
1 paper
NM_000368.5
p.K238N
c.714G>T
1 paper
NM_000368.5
p.K238N
c.714G>C
1 paper
NM_001162427.2
p.K187delFs
c.559delT
1 paper
NM_000368.5
p.G236fs
c.706_707fs
1 paper
NM_000368.5
p.D239A
c.716A>C
1 paper
NM_001162427.2
p.S186_D188del0
c.557_562del6
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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."