Varaico: Literature-Extracted Genetic Variants

Gene:TSC1
Variant:p.S511fs

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.S511fs
c.1531_1532fs
Surrounding Variants
1 paper
NM_000368.5
p.S511R
c.1531A>C
3 papers
NM_000368.5
p.S511insFs
c.1531dupA
5 papers
NM_000368.5
p.D510_S511delFs
c.1530_1531delTG
1 paper
NM_000368.5
p.D510fs
c.1528_1529fs
1 paper
NM_000368.5
p.D510delFs
c.1528_1529delTC
1 paper
NM_000368.5
p.R509_D510del1
c.1527_1529delTCT
1 paper
NM_000368.5
p.S511fs
c.1531_1532fs
1 paper
NM_000368.5
p.S511R
c.1533T>G
1 paper
NM_000368.5
p.S511R
c.1533T>A
1 paper
NM_000368.5
p.D510A
c.1529A>C
1 paper
NM_000368.5
p.D510H
c.1528G>C
1 paper
NM_000368.5
p.D510N
c.1528G>A
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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."