Varaico: Literature-Extracted Genetic Variants

Gene:TSC1
Variant:p.I97L

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.I97L
c.289A>C
Surrounding Variants
1 paper
NM_000368.5
p.V96del1
c.286_288delGAC
1 paper
NM_000368.5
p.V96V
c.288C>T
2 papers
NM_000368.5
p.G94_V96delFs
c.280_287del8
1 paper
NM_000368.5
p.V96D
c.287T>A
1 paper
NM_000368.5
p.V96_I97delFs
c.286_290del5
1 paper
NM_000368.5
p.V96fs
c.286_287fs
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.H95R
c.284A>G
1 paper
NM_000368.5
p.R86_H95delFs
c.258_283del26
1 paper
NM_000368.5
p.L99R
c.296T>G
1 paper
NM_000368.5
p.L93delFs
c.279delC
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