Varaico: Literature-Extracted Genetic Variants

Gene:TSC1
Variant:p.R593_V594delFs

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
2 papers
NM_000368.5
p.R593_V594delFs
c.1779_1780delCT
Surrounding Variants
1 paper
NM_000368.5
p.V594fs
c.1780_1781fs
2 papers
NM_000368.5
p.V594delFs
c.1781delA
1 paper
NM_000368.5
p.V594fs
c.1780_1781fs
2 papers
NM_000368.5
p.V594delFs
c.1781_1782delCA
1 paper
NM_000368.5
p.G595fs
c.1783_1784fs
1 paper
NM_000368.5
p.R593insFs
c.1777dupA
1 paper
NM_000368.5
p.R593K
c.1778G>A
1 paper
NM_000368.5
p.T592_G595delFs
c.1774_1783del10
1 paper
NM_000368.5
p.P590_R593delFs
c.1770_1777del8
1 paper
NM_000368.5
p.G595fs
c.1783_1784fs
1 paper
NM_000368.5
p.G595delFs
c.1784delC
1 paper
NM_000368.5
p.R593*
c.1777A>T
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