Varaico: Literature-Extracted Genetic Variants

Gene:TSC1
Variant:p.G94delins

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.G94delins
c.280_281delinsTT
Surrounding Variants
1 paper
NM_000368.5
p.L93delFs
c.279delC
1 paper
NM_000368.5
p.G94fs
c.280_281fs
1 paper
NM_000368.5
p.L93fs
c.277_278fs
1 paper
NM_000368.5
p.L92_L93delFs
c.274_277del4
6 papers
NM_000368.5
p.L93R
c.278T>G
1 paper
NM_000368.5
p.L93P
c.278T>C
2 papers
NM_000368.5
p.L93Q
c.278T>A
1 paper
NM_000368.5
p.H95R
c.284A>G
1 paper
NM_000368.5
p.R86_H95delFs
c.258_283del26
1 paper
NM_000368.5
p.L93fs
c.277_278fs
1 paper
NM_000368.5
p.L92insFs
c.276dupA
1 paper
NM_000368.5
p.L92_L93insFs
c.276_277insAA
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