Varaico: Literature-Extracted Genetic Variants

Gene:TSC1
Variant:p.S331fs

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
4 papers
NM_000368.5
p.S331fs
c.991_992fs
Surrounding Variants
2 papers
NM_000368.5
p.S331_S332insFs
c.993_994insA
1 paper
NM_000368.5
p.S331delFs
c.992delC
1 paper
NM_000368.5
p.S332insFs
c.994_995insA
1 paper
NM_000368.5
p.S332A
c.994T>G
2 papers
NM_000368.5
p.S332fs
c.994_995fs
7 papers
NM_000368.5
p.S331fs
c.991_992fs
1 paper
NM_000368.5
p.S332delFs
c.994delA
1 paper
NM_000368.5
p.L330insFs
c.990dupG
2 papers
NM_000368.5
p.L330delFs
c.989_990delCA
15 papers
NM_000368.5
p.L330insFs
c.989dupT
2 papers
NM_000368.5
p.L330insFs
c.989_990insTT
3 papers
NM_000368.5
p.L330fs
c.988_989fs
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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."