Varaico: Literature-Extracted Genetic Variants

Gene:TSC1
Variant:p.I580fs

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.I580fs
c.1738_1739fs
Surrounding Variants
1 paper
NM_000368.5
p.I580delFs
c.1738_1739delAT
1 paper
NM_000368.5
p.F581fs
c.1741_1742fs
2 papers
NM_000368.5
p.I580fs
c.1738_1739fs
2 papers
NM_000368.5
p.S579insFs
c.1737dupT
1 paper
NM_000368.5
p.T578_S579delFs
c.1734_1737del4
1 paper
NM_000368.5
p.S579delFs
c.1736delC
1 paper
NM_000368.5
p.F581insFs
c.1742_1743insTT
3 papers
NM_000368.5
p.F581delFs
c.1741_1742delAA
1 paper
NM_000368.5
p.L576_F581delFs
c.1727_1742del16
1 paper
NM_000368.5
p.T582fs
c.1744_1745fs
1 paper
NM_000368.5
p.S579I
c.1736G>T
1 paper
NM_000368.5
p.S575_S579del0
c.1724_1735del12
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."