Varaico: Literature-Extracted Genetic Variants

Gene:TSC1
Variant:p.Y761*

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
8 papers
NM_000368.5
p.Y761*
c.2283C>A
Surrounding Variants
8 papers
NM_000368.5
p.Y761*
c.2283C>G
2 papers
NM_000368.5
p.Y761insFs
c.2282dupA
1 paper
NM_000368.5
p.N762fs
c.2284_2285fs
1 paper
NM_000368.5
p.Y761C
c.2282A>G
1 paper
NM_000368.5
p.Y761delFs
c.2283delG
2 papers
NM_000368.5
p.Y761H
c.2281T>C
1 paper
NM_000368.5
p.E757_R760delFs
c.2271_2280del10
1 paper
NM_000368.5
p.Y761fs
c.2281_2282fs
1 paper
NM_000368.5
p.N762I
c.2285A>T
19 papers
NM_000368.5
p.N762S
c.2285A>G
1 paper
NM_000368.5
p.Y761_N762insFs
c.2281_2284dup4
1 paper
NM_000368.5
p.N762fs
c.2284_2285fs
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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."