Varaico: Literature-Extracted Genetic Variants

Gene:TSC1
Variant:p.P327S

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.P327S
c.979C>T
Surrounding Variants
1 paper
NM_000368.5
p.P327fs
c.979_980fs
1 paper
NM_000368.5
p.P327insFs
c.979_980insTC
1 paper
NM_000368.5
p.P327T
c.979C>A
1 paper
NM_000368.5
p.M322_L326delFs
c.965_978del14
1 paper
NM_000368.5
p.Q328fs
c.982_983fs
13 papers
NM_000368.5
p.Q328*
c.982C>T
1 paper
NM_000368.5
p.L326_P327insFs
c.978_981dup4
1 paper
NM_000368.5
p.G324_Q325del2
c.970_974del6
2 papers
NM_000368.5
p.Q328L
c.983A>T
1 paper
NM_000368.5
p.Q328_T329insFs
c.984_985insCT
1 paper
NM_000368.5
p.Q328insFs
c.983dupA
1 paper
NM_000368.5
p.Q328delFs
c.983delT
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."