Varaico: Literature-Extracted Genetic Variants

Gene:TSC1
Variant:p.Y508C

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.Y508C
c.1523A>G
Surrounding Variants
1 paper
NM_000368.5
p.Y508F
c.1523A>T
1 paper
NM_000368.5
p.Y508delFs
c.1522delA
1 paper
NM_000368.5
p.Y508H
c.1522T>C
1 paper
NM_000368.5
p.Y508N
c.1522T>A
2 papers
NM_000368.5
p.Y508*
c.1524C>G
2 papers
NM_000368.5
p.Y508fs
c.1522_1523fs
2 papers
NM_000368.5
p.Y508*
c.1524C>A
1 paper
NM_000368.5
p.Y508fs
c.1522_1523fs
1 paper
NM_000368.5
p.F507L
c.1521T>G
1 paper
NM_000368.5
p.F507L
c.1521T>A
55 papers
NM_000368.5
p.R509*
c.1525C>T
1 paper
NM_000368.5
p.F507_Y508delFs
c.1521_1524del4
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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."