Varaico: Literature-Extracted Genetic Variants

Gene:TSC1
Variant:p.Q516_R517Fs

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.Q516_R517Fs
c.1548_1550delinsTCFs
Surrounding Variants
1 paper
NM_000368.5
p.R517Q
c.1550G>A
1 paper
NM_000368.5
p.R517fs
c.1549_1550fs
1 paper
NM_000368.5
p.R517W
c.1549C>T
1 paper
NM_000368.5
p.G514_R517Fs
c.1541_1549delinsTGFs
1 paper
NM_000368.5
p.K518fs
c.1552_1553fs
1 paper
NM_000368.5
p.R517delFs
c.1551delC
3 papers
NM_000368.5
p.R517delFs
c.1550_1551delCC
1 paper
NM_000368.5
p.Q516fs
c.1546_1547fs
10 papers
NM_000368.5
p.Q516*
c.1546C>T
1 paper
NM_000368.5
p.S515delFs
c.1545delA
1 paper
NM_000368.5
p.S515Y
c.1544C>A
1 paper
NM_000368.5
p.S515fs
c.1543_1544fs
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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."