Varaico: Literature-Extracted Genetic Variants

Gene:TSC1
Variant:p.F507L

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.F507L
c.1519T>C
Surrounding Variants
1 paper
NM_000368.5
p.P506insFs
c.1517_1518dupCC
1 paper
NM_000368.5
p.F507I
c.1519T>A
2 papers
NM_000368.5
p.F507fs
c.1519_1520fs
2 papers
NM_001162427.2
p.P455delFs
c.1365delG
NM_000368.5
p.P506delFs
c.1518delG
1 paper
NM_000368.5
p.P506_F507insFs
c.1518_1519dupCT
2 papers
NM_001162427.2
p.P455fs
c.1363_1364fs
NM_000368.5
p.P506fs
c.1516_1517fs
1 paper
NM_000368.5
p.F507L
c.1521T>G
1 paper
NM_000368.5
p.F507L
c.1521T>A
1 paper
NM_000368.5
p.S505_P506delFs
c.1515_1516delGA
1 paper
NM_000368.5
p.Y508H
c.1522T>C
1 paper
NM_000368.5
p.Y508N
c.1522T>A
1 paper
NM_000368.5
p.S505insFs
c.1515dupT
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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."