Varaico: Literature-Extracted Genetic Variants

Gene:TSC1
Variant:p.V594fs

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.V594fs
c.1780_1781fs
Surrounding Variants
2 papers
NM_000368.5
p.R593_V594delFs
c.1779_1780delCT
1 paper
NM_000368.5
p.V594fs
c.1780_1781fs
1 paper
NM_000368.5
p.R593insFs
c.1777dupA
1 paper
NM_000368.5
p.R593K
c.1778G>A
2 papers
NM_000368.5
p.V594delFs
c.1781delA
1 paper
NM_000368.5
p.P590_R593delFs
c.1770_1777del8
2 papers
NM_000368.5
p.V594delFs
c.1781_1782delCA
1 paper
NM_000368.5
p.G595fs
c.1783_1784fs
1 paper
NM_000368.5
p.R593*
c.1777A>T
2 papers
NM_000368.5
p.T592delFs
c.1776delC
3 papers
NM_000368.5
p.R593fs
c.1777_1778fs
1 paper
NM_000368.5
p.T592_G595delFs
c.1774_1783del10
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."