Varaico: Literature-Extracted Genetic Variants

Gene:TSC1
Variant:p.P333insFs

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.P333insFs
c.998dupC
Surrounding Variants
1 paper
NM_000368.5
p.P333fs
c.997_998fs
1 paper
NM_000368.5
p.P333delFs
c.998delG
1 paper
NM_000368.5
p.P333delFs
c.997_998delGG
1 paper
NM_000368.5
p.S334fs
c.1000_1001fs
1 paper
NM_000368.5
p.T329_P333Fs
c.985_998delinsGCAGTTFs
9 papers
NM_000368.5
p.S334L
c.1001C>T
5 papers
NM_000368.5
p.S334*
c.1001C>A
1 paper
NM_000368.5
p.S332delFs
c.994delA
1 paper
NM_000368.5
p.T335Fs
c.1003delinsGAFs
1 paper
NM_000368.5
p.T335fs
c.1003_1004fs
1 paper
NM_000368.5
p.S332insFs
c.994_995insA
1 paper
NM_000368.5
p.S332A
c.994T>G
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."