Varaico: Literature-Extracted Genetic Variants

Gene:TSC1
Variant:p.K722delFs

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.K722delFs
c.2165delT
Surrounding Variants
1 paper
NM_000368.5
p.K722fs
c.2164_2165fs
1 paper
NM_000368.5
p.V723insFs
c.2168_2169insA
1 paper
NM_000368.5
p.K722fs
c.2164_2165fs
1 paper
NM_000368.5
p.K722*
c.2164A>T
1 paper
NM_000368.5
p.V723fs
c.2167_2168fs
1 paper
NM_000368.5
p.R718_R721delFs
c.2153_2162del10
1 paper
NM_000368.5
p.R721H
c.2162G>A
1 paper
NM_000368.5
p.I724fs
c.2170_2171fs
1 paper
NM_000368.5
p.V723delFs
c.2169delC
1 paper
NM_000368.5
p.I724insFs
c.2171_2172ins14
1 paper
NM_000368.5
p.R721C
c.2161C>T
2 papers
NM_000368.5
p.R721fs
c.2161_2162fs
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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."