Varaico: Literature-Extracted Genetic Variants

Gene:TSC1
Variant:p.A522delFs

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.A522delFs
c.1566delT
Surrounding Variants
2 papers
NM_000368.5
p.A523P
c.1567G>C
1 paper
NM_000368.5
p.A522delFs
c.1565_1566delTG
1 paper
NM_000368.5
p.A523fs
c.1567_1568fs
2 papers
NM_000368.5
p.A523V
c.1568C>T
1 paper
NM_000368.5
p.A522E
c.1565C>A
1 paper
NM_000368.5
p.S521fs
c.1561_1562fs
1 paper
NM_000368.5
p.S521L
c.1562C>T
1 paper
NM_000368.5
p.S524S
c.1572C>G
2 papers
NM_000368.5
p.S521*
c.1562C>A
1 paper
NM_000368.5
p.S525fs
c.1573_1574fs
1 paper
NM_000368.5
p.H520delFs
c.1560delG
1 paper
NM_000368.5
p.H520Q
c.1560C>G
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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."