Varaico: Literature-Extracted Genetic Variants

Gene:TSC1
Variant:p.I779insFs

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.I779insFs
c.2336dupT
Surrounding Variants
1 paper
NM_000368.5
p.S777_Q778del2
c.2329_2333del6
1 paper
NM_000368.5
p.R780fs
c.2338_2339fs
1 paper
NM_000368.5
p.I779delFs
c.2337delG
1 paper
NM_000368.5
p.R780K
c.2339G>A
1 paper
NM_000368.5
p.I779F
c.2335A>T
1 paper
NM_000368.5
p.R780fs
c.2338_2339fs
9 papers
NM_000368.5
p.Q781*
c.2341C>T
1 paper
NM_000368.5
p.Q778delFs
c.2332delG
1 paper
NM_000368.5
p.Q778fs
c.2332_2333fs
4 papers
NM_000368.5
p.Q778*
c.2332C>T
6 papers
NM_000368.5
p.Q781insFs
c.2342_2343insAA
1 paper
NM_000368.5
p.S777fs
c.2329_2330fs
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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."