Varaico: Literature-Extracted Genetic Variants

Gene:TSC1
Variant:p.T310_P311insFs

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.T310_P311insFs
c.930_931insT
Surrounding Variants
1 paper
NM_000368.5
p.T310_P311insFs
c.930_931ins4
1 paper
NM_000368.5
p.T310T
c.930C>A
1 paper
NM_000368.5
p.P311fs
c.931_932fs
1 paper
NM_000368.5
p.P311S
c.931C>T
1 paper
NM_000368.5
p.P311T
c.931C>A
1 paper
NM_000368.5
p.T310A
c.928A>G
1 paper
NM_000368.5
p.A307insFs
c.919_920ins8
3 papers
NM_000368.5
p.P311fs
c.931_932fs
4 papers
NM_000368.5
p.T310delFs
c.930delG
1 paper
NM_000368.5
p.Y312C
c.935A>G
6 papers
NM_000368.5
p.Y312*
c.936C>G
1 paper
NM_000368.5
p.Y312insFs
c.935dupA
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