Varaico: Literature-Extracted Genetic Variants

Gene:TSC1
Variant:p.R228*

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
30 papers
NM_000368.5
p.R228*
c.682C>T
Surrounding Variants
1 paper
NM_000368.5
p.R228L
c.683G>T
1 paper
NM_000368.5
p.R228Q
c.683G>A
1 paper
NM_000368.5
p.R228insFs
c.683dupG
1 paper
NM_000368.5
p.I229fs
c.685_686fs
1 paper
NM_000368.5
p.H226Y
c.676C>T
1 paper
NM_000368.5
p.I229insFs
c.687dupT
1 paper
NM_000368.5
p.H230Q
c.690T>A
1 paper
NM_000368.5
p.E225A
c.674A>C
1 paper
NM_000368.5
p.E225*
c.673G>T
1 paper
NM_000368.5
p.E225_H226insTGG
c.673_677ins9
1 paper
NM_000368.5
p.E225K
c.673G>A
1 paper
NM_000368.5
p.M224I
c.672G>A
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