Varaico: Literature-Extracted Genetic Variants

Gene:TSC1
Variant:p.R570delFs

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.R570delFs
c.1708_1709delCT
Surrounding Variants
1 paper
NM_000368.5
p.R570fs
c.1708_1709fs
2 papers
NM_000368.5
p.E571*
c.1711G>T
1 paper
NM_000368.5
p.E571fs
c.1711_1712fs
1 paper
NM_000368.5
p.R570fs
c.1708_1709fs
1 paper
NM_000368.5
p.D569delFs
c.1707delG
1 paper
NM_000368.5
p.C572R
c.1714T>C
1 paper
NM_000368.5
p.E571delFs
c.1713delT
1 paper
NM_000368.5
p.C572fs
c.1714_1715fs
1 paper
NM_000368.5
p.S561_D569insFs
c.1683_1705dup23
1 paper
NM_000368.5
p.D569H
c.1705G>C
1 paper
NM_000368.5
p.D569N
c.1705G>A
1 paper
NM_000368.5
p.D569fs
c.1705_1706fs
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