Varaico: Literature-Extracted Genetic Variants

Gene:TSC1
Variant:p.L627_L628insFs

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.L627_L628insFs
c.1881_1882dupGT
Surrounding Variants
4 papers
NM_000368.5
p.L628*
c.1883T>G
4 papers
NM_000368.5
p.L628*
c.1883T>A
2 papers
NM_000368.5
p.L628fs
c.1882_1883fs
1 paper
NM_001162427.2
p.L576_L577del1
c.1728_1730delAAC
1 paper
NM_001162427.2
p.F568_L576del0
c.1704_1727del24
2 papers
NM_000368.5
p.K629fs
c.1885_1886fs
1 paper
NM_000368.5
p.T624_K629Fs
c.1871_1885delinsACACFs
1 paper
NM_000368.5
p.K629M
c.1886A>T
4 papers
NM_000368.5
p.K629fs
c.1885_1886fs
1 paper
NM_000368.5
p.K629insFs
c.1886dupA
3 papers
NM_000368.5
p.K629delFs
c.1886delT
1 paper
NM_000368.5
p.L627M
c.1879C>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."