Varaico: Literature-Extracted Genetic Variants

Gene:TSC1
Variant:p.T547_P548delFs

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
3 papers
NM_000368.5
p.T547_P548delFs
c.1641_1642delGT
Surrounding Variants
1 paper
NM_000368.5
p.P548L
c.1643C>T
3 papers
NM_000368.5
p.P548fs
c.1642_1643fs
1 paper
NM_000368.5
p.K549*
c.1645A>T
1 paper
NM_000368.5
p.T547insFs
c.1639dupA
1 paper
NM_000368.5
p.T547K
c.1640C>A
1 paper
NM_000368.5
p.K549R
c.1646A>G
1 paper
NM_000368.5
p.Q550*
c.1648C>T
5 papers
NM_000368.5
p.Q550E
c.1648C>G
1 paper
NM_000368.5
p.D546fs
c.1636_1637fs
1 paper
NM_000368.5
p.G544_K549delFs
c.1631_1647del17
1 paper
NM_000368.5
p.D546Y
c.1636G>T
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."