Varaico: Literature-Extracted Genetic Variants

Gene:TSC1
Variant:p.F552insFs

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.F552insFs
c.1656dupT
Surrounding Variants
1 paper
NM_000368.5
p.T553fs
c.1657_1658fs
1 paper
NM_000368.5
p.T553A
c.1657A>G
1 paper
NM_001162427.2
p.F501ins2
c.1502_1503ins6
1 paper
NM_001162427.2
p.F501ins2
c.1502_1503ins6
1 paper
NM_000368.5
p.D546_T553del0
c.1637_1657del21
1 paper
NM_000368.5
p.F552insFs
c.1655_1656insGA
1 paper
NM_000368.5
p.F552insFs
c.1654_1655insGA
1 paper
NM_000368.5
p.P554L
c.1661C>T
1 paper
NM_000368.5
p.A551D
c.1652C>A
1 paper
NM_000368.5
p.I555fs
c.1663_1664fs
1 paper
NM_000368.5
p.P554delFs
c.1662delG
2 papers
NM_000368.5
p.Q550_A551insFs
c.1650_1651insC
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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."