Varaico: Literature-Extracted Genetic Variants

Gene:TSC1
Variant:p.S753N

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.S753N
c.2258G>A
Surrounding Variants
1 paper
NM_000368.5
p.S753I
c.2258G>T
2 papers
NM_000368.5
p.S753insFs
c.2257dupA
2 papers
NM_000368.5
p.S753fs
c.2257_2258fs
1 paper
NM_000368.5
p.V752fs
c.2254_2255fs
1 paper
NM_000368.5
p.L754delFs
c.2261delA
1 paper
NM_000368.5
p.K751delFs
c.2252_2253delCT
1 paper
NM_000368.5
p.K751K
c.2253G>A
6 papers
NM_000368.5
p.Q755*
c.2263C>T
1 paper
NM_000368.5
p.Q755R
c.2264A>G
2 papers
NM_000368.5
p.K751fs
c.2251_2252fs
1 paper
NM_000368.5
p.W750_K751delins
c.2250_2251delinsTT
1 paper
NM_000368.5
p.W750insFs
c.2248_2249dupTG
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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."