Varaico: Literature-Extracted Genetic Variants

Gene:TSC1
Variant:p.Q100fs

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.Q100fs
c.298_299fs
Surrounding Variants
4 papers
NM_000368.5
p.Q100*
c.298C>T
1 paper
NM_000368.5
p.L99_Q100delins
c.297_298delinsTT
1 paper
NM_000368.5
p.L99R
c.296T>G
1 paper
NM_000368.5
p.Q100H
c.300G>T
1 paper
NM_000368.5
p.P101S
c.301C>T
1 paper
NM_000368.5
p.P101P
c.303A>G
1 paper
NM_000368.5
p.S102fs
c.304_305fs
4 papers
NM_000368.5
p.R98*
c.292A>T
1 paper
NM_000368.5
p.I97_R98delins
c.291_292delinsTT
1 paper
NM_000368.5
p.S102delFs
c.304delA
1 paper
NM_000368.5
p.V96_I97delFs
c.286_290del5
1 paper
NM_000368.5
p.L99_S102delFs
c.297_306del10
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