Varaico: Literature-Extracted Genetic Variants

Gene:TSC1
Variant:p.L90F

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.L90F
c.268C>T
Surrounding Variants
1 paper
NM_000368.5
p.I89insFs
c.266_267dupTC
1 paper
NM_000368.5
p.L90I
c.268C>A
1 paper
NM_000368.5
p.L90fs
c.268_269fs
2 papers
NM_000368.5
p.L90R
c.269T>G
1 paper
NM_000368.5
p.L90P
c.269T>C
1 paper
NM_000368.5
p.A84_L90del7
c.250_269del21
2 papers
NM_000368.5
p.S91fs
c.271_272fs
3 papers
NM_000368.5
p.S91L
c.272C>T
3 papers
NM_000368.5
p.S91*
c.272C>A
2 papers
NM_000368.5
p.S91delFs
c.271_272delGA
1 paper
NM_000368.5
p.S88A
c.262T>G
1 paper
NM_000368.5
p.S88fs
c.262_263fs
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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."