Varaico: Literature-Extracted Genetic Variants

Gene:TSC1
Variant:p.K632delFs

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
2 papers
NM_000368.5
p.K632delFs
c.1896delT
Surrounding Variants
1 paper
NM_000368.5
p.G633*
c.1897G>T
1 paper
NM_000368.5
p.G633fs
c.1897_1898fs
1 paper
NM_000368.5
p.K632fs
c.1894_1895fs
1 paper
NM_000368.5
p.A631_K632insFs
c.1891_1895dup5
1 paper
NM_000368.5
p.A631_K632delFs
c.1891_1895del5
1 paper
NM_000368.5
p.K632I
c.1895A>T
2 papers
NM_000368.5
p.G633insFs
c.1897_1898insG
1 paper
NM_000368.5
p.G633fs
c.1897_1898fs
1 paper
NM_000368.5
p.N634fs
c.1900_1901fs
1 paper
NM_000368.5
p.A631E
c.1892C>A
24 papers
NM_000368.5
p.K630_A631delFs
c.1888_1891del4
1 paper
NM_000368.5
p.N634delFs
c.1900_1901delTT
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