Varaico: Literature-Extracted Genetic Variants

Gene:TSC1
Variant:p.D569H

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.D569H
c.1705G>C
Surrounding Variants
1 paper
NM_000368.5
p.D569N
c.1705G>A
1 paper
NM_000368.5
p.D569fs
c.1705_1706fs
1 paper
NM_000368.5
p.G568insFs
c.1703dupG
1 paper
NM_000368.5
p.S561_D569insFs
c.1683_1705dup23
2 papers
NM_000368.5
p.G568fs
c.1702_1703fs
1 paper
NM_000368.5
p.P566_G568Fs
c.1698_1704delinsGCFs
1 paper
NM_000368.5
p.A567ins0
c.1699_1701dupGCG
2 papers
NM_000368.5
p.G560_G568insFs
c.1680_1702dup23
2 papers
NM_001162427.2
p.G517E
c.1550G>A
NM_000368.5
p.G568E
c.1703G>A
2 papers
NM_000368.5
p.G560_G568delFs
c.1680_1702del23
1 paper
NM_000368.5
p.G568*
c.1702G>T
1 paper
NM_000368.5
p.G568R
c.1702G>C
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."