Varaico: Literature-Extracted Genetic Variants

Gene:TSC1
Variant:p.P583delFs

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.P583delFs
c.1749delG
Surrounding Variants
1 paper
NM_000368.5
p.S584fs
c.1750_1751fs
1 paper
NM_000368.5
p.P583_S584delFs
c.1749_1750delTG
1 paper
NM_000368.5
p.R570_P583del14
c.1708_1748del42
1 paper
NM_000368.5
p.L576_P583delins
c.1727_1748delinsG
1 paper
NM_000368.5
p.P585fs
c.1753_1754fs
2 papers
NM_000368.5
p.P585S
c.1753C>T
1 paper
NM_000368.5
p.P583S
c.1747C>T
1 paper
NM_001162427.2
p.P534A
c.1600C>G
1 paper
NM_000368.5
p.T582insFs
c.1746dupT
1 paper
NM_000368.5
p.S584delFs
c.1751_1752delAC
1 paper
NM_000368.5
p.S584del1
c.1750_1751delACT
1 paper
NM_000368.5
p.P583fs
c.1747_1748fs
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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."