Varaico: Literature-Extracted Genetic Variants

Gene:TSC1
Variant:p.Q109fs

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.Q109fs
c.325_326fs
Surrounding Variants
1 paper
NM_000368.5
p.Q109_A110delins
c.327_328delinsAT
1 paper
NM_000368.5
p.A110T
c.328G>A
1 paper
NM_000368.5
p.Q109_A110delins
c.327_328delinsTT
1 paper
NM_000368.5
p.Q109delFs
c.326delT
1 paper
NM_000368.5
p.Q109L
c.326A>T
1 paper
NM_000368.5
p.S108_Q109delFs
c.324_325delGA
10 papers
NM_000368.5
p.Q109*
c.325C>T
1 paper
NM_000368.5
p.A110V
c.329C>T
3 papers
NM_000368.5
p.Q109E
c.325C>G
1 paper
NM_000368.5
p.Q109insFs
c.325_326insA
1 paper
NM_000368.5
p.Q109K
c.325C>A
2 papers
NM_000368.5
p.Q109fs
c.325_326fs
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