Varaico: Literature-Extracted Genetic Variants

Gene:TSC1
Variant:p.G324_Q325del2

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.G324_Q325del2
c.970_974del6
Surrounding Variants
1 paper
NM_000368.5
p.P327fs
c.979_980fs
2 papers
NM_000368.5
p.Q325fs
c.973_974fs
1 paper
NM_000368.5
p.P327S
c.979C>T
1 paper
NM_000368.5
p.Q325*
c.973C>T
1 paper
NM_000368.5
p.G324insFs
c.972dupG
1 paper
NM_000368.5
p.P327insFs
c.979_980insTC
2 papers
NM_000368.5
p.Q325delins
c.973_974delinsAA
1 paper
NM_000368.5
p.P327T
c.979C>A
1 paper
NM_000368.5
p.M322_L326delFs
c.965_978del14
2 papers
NM_000368.5
p.G324_Q325insFs
c.972_973insT
1 paper
NM_000368.5
p.G324insFs
c.970_971insT
1 paper
NM_000368.5
p.Q328fs
c.982_983fs
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