Varaico: Literature-Extracted Genetic Variants

Gene:TSC1
Variant:p.L242P

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.L242P
c.725T>C
Surrounding Variants
1 paper
NM_000368.5
p.L242fs
c.724_725fs
1 paper
NM_000368.5
p.L242L
c.724C>T
1 paper
NM_000368.5
p.E241insFs
c.723dupA
2 papers
NM_000368.5
p.D243Y
c.727G>T
1 paper
NM_001162427.2
p.G185_L191delFs
c.555_573del19
1 paper
NM_000368.5
p.D243fs
c.727_728fs
1 paper
NM_000368.5
p.E241delins
c.722_723delinsTT
1 paper
NM_000368.5
p.D243V
c.728A>T
1 paper
NM_000368.5
p.D243delFs
c.727delC
2 papers
NM_000368.5
p.E241*
c.721G>T
1 paper
NM_000368.5
p.E241K
c.721G>A
1 paper
NM_000368.5
p.E241fs
c.721_722fs
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."