Varaico: Literature-Extracted Genetic Variants

Gene:TSC1
Variant:p.E232fs

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.E232fs
c.694_695fs
Surrounding Variants
1 paper
NM_000368.5
p.E232*
c.694G>T
1 paper
NM_000368.5
p.E232K
c.694G>A
1 paper
NM_000368.5
p.E232delFs
c.694delC
3 papers
NM_000368.5
p.P231L
c.692C>T
3 papers
NM_000368.5
p.L233fs
c.697_698fs
1 paper
NM_000368.5
p.H230Q
c.690T>A
2 papers
NM_000368.5
p.V234L
c.700G>T
3 papers
NM_000368.5
p.L233_V234Fs
c.699_701delinsCAGTCCTTFs
1 paper
NM_000368.5
p.I229insFs
c.687dupT
1 paper
NM_000368.5
p.V234A
c.701T>C
1 paper
NM_000368.5
p.I229fs
c.685_686fs
1 paper
NM_000368.5
p.R228insFs
c.683dupG
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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."