Varaico: Literature-Extracted Genetic Variants

Gene:TSC1
Variant:p.G501delFs

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.G501delFs
c.1503delT
Surrounding Variants
1 paper
NM_000368.5
p.G502fs
c.1504_1505fs
1 paper
NM_000368.5
p.G502D
c.1505G>A
2 papers
NM_000368.5
p.P496_G502delFs
c.1486_1504del19
1 paper
NM_000368.5
p.R500_G501delFs
c.1500_1501delCT
1 paper
NM_000368.5
p.V498_G502delFs
c.1493_1505del13
1 paper
NM_000368.5
p.F503L
c.1507T>C
2 papers
NM_000368.5
p.G501*
c.1501G>T
1 paper
NM_000368.5
p.G501fs
c.1501_1502fs
1 paper
NM_000368.5
p.F503Y
c.1508T>A
1 paper
NM_000368.5
p.F503_D504insFs
c.1509_1510insAA
1 paper
NM_000368.5
p.F503L
c.1509T>G
1 paper
NM_000368.5
p.F503L
c.1509T>A
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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."