Varaico: Literature-Extracted Genetic Variants

Gene:TSC1
Variant:p.Y553_F557del0

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_001162427.2
p.Y553_F557del0
c.1659_1670del12
Surrounding Variants
1 paper
NM_001162427.2
p.L556_E558del0
c.1667_1672del6
1 paper
NM_001162427.2
p.P550_E558delFs
c.1648_1672del25
1 paper
NM_001162427.2
p.V559G
c.1676T>G
1 paper
NM_001162427.2
p.V559A
c.1676T>C
1 paper
NM_001162427.2
p.V559E
c.1676T>A
8 papers
NM_000368.5
p.E609*
c.1825G>T
2 papers
NM_000368.5
p.E609insFs
c.1825_1826insT
1 paper
NM_000368.5
p.F608insFs
c.1823_1824dupTT
1 paper
NM_000368.5
p.E609Q
c.1825G>C
1 paper
NM_000368.5
p.E609K
c.1825G>A
3 papers
NM_000368.5
p.F608delFs
c.1824delA
1 paper
NM_000368.5
p.F608delFs
c.1823_1824delAA
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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."