Varaico: Literature-Extracted Genetic Variants

Gene:TSC1
Variant:p.H699Y

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.H699Y
c.2095C>T
Surrounding Variants
1 paper
NM_000368.5
p.L698delFs
c.2094delC
1 paper
NM_000368.5
p.H699fs
c.2095_2096fs
1 paper
NM_000368.5
p.H699insFs
c.2096_2097ins28
2 papers
NM_000368.5
p.L698R
c.2093T>G
1 paper
NM_000368.5
p.N700fs
c.2098_2099fs
1 paper
NM_000368.5
p.H699insFs
c.2097dupC
1 paper
NM_000368.5
p.T690_H699insFs
c.2070_2097dup28
3 papers
NM_000368.5
p.L697insFs
c.2090dupT
1 paper
NM_000368.5
p.L697fs
c.2089_2090fs
2 papers
NM_000368.5
p.L697delFs
c.2090delA
2 papers
NM_000368.5
p.L697*
c.2090T>G
3 papers
NM_000368.5
p.L697*
c.2090T>A
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