Varaico: Literature-Extracted Genetic Variants

Gene:TSC1
Variant:p.P566delFs

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.P566delFs
c.1697delG
Surrounding Variants
1 paper
NM_000368.5
p.P566fs
c.1696_1697fs
1 paper
NM_000368.5
p.P566L
c.1697C>T
1 paper
NM_000368.5
p.P566fs
c.1696_1697fs
11 papers
NM_000368.5
p.A567V
c.1700C>T
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.A567fs
c.1699_1700fs
1 paper
NM_000368.5
p.A567A
c.1701G>A
3 papers
NM_000368.5
p.S561_A567delFs
c.1681_1700del20
1 paper
NM_000368.5
p.G568*
c.1702G>T
1 paper
NM_000368.5
p.G568R
c.1702G>C
1 paper
NM_000368.5
p.G568R
c.1702G>A
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