Varaico: Literature-Extracted Genetic Variants

Gene:TSC1
Variant:p.S561_A562del2

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.S561_A562del2
c.1681_1685del6
Surrounding Variants
1 paper
NM_000368.5
p.D563fs
c.1687_1688fs
1 paper
NM_000368.5
p.D563delFs
c.1687delC
1 paper
NM_000368.5
p.D563E
c.1689T>G
2 papers
NM_000368.5
p.E564*
c.1690G>T
1 paper
NM_000368.5
p.D563delFs
c.1688_1689delAT
1 paper
NM_000368.5
p.E564fs
c.1690_1691fs
2 papers
NM_000368.5
p.S561fs
c.1681_1682fs
1 paper
NM_000368.5
p.E564insFs
c.1690_1691insG
1 paper
NM_000368.5
p.E564delFs
c.1690delC
4 papers
NM_000368.5
p.S561fs
c.1681_1682fs
1 paper
NM_000368.5
p.S565fs
c.1693_1694fs
1 paper
NM_000368.5
p.S565G
c.1693A>G
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