Varaico: Literature-Extracted Genetic Variants

Gene:TSC1
Variant:p.R500*

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
36 papers
NM_000368.5
p.R500*
c.1498C>T
Surrounding Variants
1 paper
NM_000368.5
p.P499delFs
c.1496delG
1 paper
NM_000368.5
p.R500L
c.1499G>T
5 papers
NM_000368.5
p.R500Q
c.1499G>A
1 paper
NM_000368.5
p.P499H
c.1496C>A
1 paper
NM_000368.5
p.P499fs
c.1495_1496fs
2 papers
NM_000368.5
p.G501*
c.1501G>T
1 paper
NM_000368.5
p.P499S
c.1495C>T
1 paper
NM_000368.5
p.G501fs
c.1501_1502fs
1 paper
NM_000368.5
p.R500_G501delFs
c.1500_1501delCT
1 paper
NM_000368.5
p.V498fs
c.1492_1493fs
1 paper
NM_000368.5
p.V497insFs
c.1490_1491dupTG
1 paper
NM_000368.5
p.V498I
c.1492G>A
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