Varaico: Literature-Extracted Genetic Variants

Gene:TSC1
Variant:p.Q600*

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
5 papers
NM_000368.5
p.Q600*
c.1798C>T
Surrounding Variants
1 paper
NM_000368.5
p.Q600fs
c.1798_1799fs
1 paper
NM_000368.5
p.G599insFs
c.1797dupG
1 paper
NM_000368.5
p.F596_Q600insFs
c.1786_1798dup13
1 paper
NM_000368.5
p.Q600delFs
c.1799delT
1 paper
NM_000368.5
p.G599R
c.1795G>C
1 paper
NM_000368.5
p.G599R
c.1795G>A
1 paper
NM_000368.5
p.P601S
c.1801C>T
1 paper
NM_000368.5
p.P601insFs
c.1802dupC
1 paper
NM_000368.5
p.S598insFs
c.1792dupA
3 papers
NM_000368.5
p.G597_S598insFs
c.1791_1792dupAA
1 paper
NM_000368.5
p.S598N
c.1793G>A
1 paper
NM_000368.5
p.P602A
c.1804C>G
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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."