Varaico: Literature-Extracted Genetic Variants

Gene:TSC1
Variant:p.L697fs

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
3 papers
NM_000368.5
p.L697fs
c.2089_2090fs
Surrounding Variants
2 papers
NM_000368.5
p.L697*
c.2090T>G
3 papers
NM_000368.5
p.L697*
c.2090T>A
1 paper
NM_000368.5
p.L696P
c.2087T>C
3 papers
NM_000368.5
p.L697insFs
c.2090dupT
1 paper
NM_000368.5
p.L697fs
c.2089_2090fs
2 papers
NM_000368.5
p.L697delFs
c.2090delA
1 paper
NM_000368.5
p.L696fs
c.2086_2087fs
1 paper
NM_000368.5
p.L695insFs
c.2085dupG
2 papers
NM_000368.5
p.L698R
c.2093T>G
1 paper
NM_000368.5
p.L695delFs
c.2084delA
1 paper
NM_000368.5
p.L695*
c.2084T>A
1 paper
NM_000368.5
p.Q694delFs
c.2082delC
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."