Varaico: Literature-Extracted Genetic Variants

Gene:TSC1
Variant:p.H617fs

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.H617fs
c.1849_1850fs
Surrounding Variants
2 papers
NM_000368.5
p.H618Y
c.1852C>T
1 paper
NM_000368.5
p.H617delFs
c.1851delA
1 paper
NM_000368.5
p.H617insFs
c.1849dupC
2 papers
NM_000368.5
p.H617delFs
c.1849delG
1 paper
NM_000368.5
p.L607_A616del10
c.1819_1847del30
3 papers
NM_000368.5
p.H617fs
c.1849_1850fs
1 paper
NM_000368.5
p.H617Y
c.1849C>T
2 papers
NM_000368.5
p.H617D
c.1849C>G
1 paper
NM_001162427.2
p.V559_A565del0
c.1675_1695del21
1 paper
NM_000368.5
p.H618delFs
c.1852delG
1 paper
NM_000368.5
p.H617_H618delFs
c.1851_1852delGA
1 paper
NM_000368.5
p.F619fs
c.1855_1856fs
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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."