Varaico: Literature-Extracted Genetic Variants

Gene:TSC1
Variant:p.G81fs

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.G81fs
c.241_242fs
Surrounding Variants
1 paper
NM_000368.5
p.G81_K82insCT
c.241_245ins6
1 paper
NM_000368.5
p.V80V
c.240G>A
1 paper
NM_000368.5
p.V80E
c.239T>A
1 paper
NM_000368.5
p.G81insFs
c.242_243insG
1 paper
NM_000368.5
p.G81delFs
c.242delC
2 papers
NM_000368.5
p.Y79*
c.237T>G
2 papers
NM_000368.5
p.Y79*
c.237T>A
2 papers
NM_000368.5
p.K82T
c.245A>C
3 papers
NM_000368.5
p.Y79C
c.236A>G
1 paper
NM_000368.5
p.Y79S
c.236A>C
1 paper
NM_000368.5
p.Y79N
c.235T>A
1 paper
NM_000368.5
p.N77_E78del2
c.229_233del6
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."