Varaico: Literature-Extracted Genetic Variants

Gene:TSC1
Variant:p.E564_S565delFs

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.E564_S565delFs
c.1692_1693delTT
Surrounding Variants
1 paper
NM_000368.5
p.S565fs
c.1693_1694fs
1 paper
NM_000368.5
p.S565G
c.1693A>G
2 papers
NM_000368.5
p.D563_E564del2
c.1687_1691del6
1 paper
NM_000368.5
p.P566fs
c.1696_1697fs
1 paper
NM_000368.5
p.P566S
c.1696C>T
1 paper
NM_000368.5
p.G560_S565del6
c.1678_1694del18
1 paper
NM_000368.5
p.P566L
c.1697C>T
1 paper
NM_000368.5
p.E564insFs
c.1690_1691insG
1 paper
NM_000368.5
p.E564delFs
c.1690delC
1 paper
NM_000368.5
p.P566fs
c.1696_1697fs
1 paper
NM_000368.5
p.P566delFs
c.1697delG
2 papers
NM_000368.5
p.E564*
c.1690G>T
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