Varaico: Literature-Extracted Genetic Variants

Gene:TSC1
Variant:p.R717insFs

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.R717insFs
c.2151dupG
Surrounding Variants
5 papers
NM_000368.5
p.R718fs
c.2152_2153fs
1 paper
NM_000368.5
p.R718W
c.2152C>T
1 paper
NM_000368.5
p.R717delFs
c.2151delC
1 paper
NM_000368.5
p.N716_R718insFs
c.2146_2153dup8
1 paper
NM_000368.5
p.R717K
c.2150G>A
1 paper
NM_000368.5
p.R717delFs
c.2149delT
1 paper
NM_000368.5
p.H712_R717delFs
c.2136_2149del14
1 paper
NM_000368.5
p.R717fs
c.2149_2150fs
1 paper
NM_000368.5
p.L719V
c.2155C>G
1 paper
NM_000368.5
p.L719fs
c.2155_2156fs
1 paper
NM_000368.5
p.L719delFs
c.2155delG
1 paper
NM_000368.5
p.N716N
c.2148C>T
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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."