Varaico: Literature-Extracted Genetic Variants

Gene:TSC1
Variant:p.Q573*

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.Q573*
c.1717C>T
Surrounding Variants
1 paper
NM_000368.5
p.Q573fs
c.1717_1718fs
1 paper
NM_000368.5
p.C572R
c.1714T>C
1 paper
NM_000368.5
p.E571delFs
c.1713delT
1 paper
NM_000368.5
p.C572fs
c.1714_1715fs
1 paper
NM_000368.5
p.T574S
c.1720A>T
1 paper
NM_000368.5
p.T574I
c.1721C>T
1 paper
NM_000368.5
p.T574S
c.1721C>G
1 paper
NM_000368.5
p.C572_T574delFs
c.1714_1720del7
1 paper
NM_000368.5
p.R570_T574delFs
c.1708_1721del14
1 paper
NM_000368.5
p.C572_T574insFs
c.1715_1722dup8
2 papers
NM_000368.5
p.E571*
c.1711G>T
1 paper
NM_000368.5
p.E571fs
c.1711_1712fs
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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."