Varaico: Literature-Extracted Genetic Variants

Gene:TSC1
Variant:p.P583fs

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.P583fs
c.1747_1748fs
Surrounding Variants
1 paper
NM_000368.5
p.P583S
c.1747C>T
1 paper
NM_000368.5
p.T582insFs
c.1746dupT
1 paper
NM_000368.5
p.L576_P583delins
c.1727_1748delinsG
1 paper
NM_000368.5
p.T582S
c.1745C>G
1 paper
NM_000368.5
p.F581_T582insFs
c.1743_1744ins5
1 paper
NM_000368.5
p.T582N
c.1745C>A
1 paper
NM_000368.5
p.S584fs
c.1750_1751fs
1 paper
NM_000368.5
p.T582fs
c.1744_1745fs
1 paper
NM_000368.5
p.T582S
c.1744A>T
1 paper
NM_000368.5
p.P583delFs
c.1749delG
1 paper
NM_000368.5
p.P583_S584delFs
c.1749_1750delTG
1 paper
NM_000368.5
p.F581insFs
c.1742_1743insTT
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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."