Varaico: Literature-Extracted Genetic Variants

Gene:TSC1
Variant:p.T519_H520delFs

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.T519_H520delFs
c.1557_1558delGG
Surrounding Variants
1 paper
NM_000368.5
p.Q516_H520Fs
c.1547_1559delinsGTGCTGCCFs
1 paper
NM_000368.5
p.H520Q
c.1560C>G
1 paper
NM_000368.5
p.H520fs
c.1558_1559fs
1 paper
NM_000368.5
p.H520Q
c.1560C>A
1 paper
NM_000368.5
p.H520delFs
c.1559delT
1 paper
NM_000368.5
p.H520fs
c.1558_1559fs
1 paper
NM_000368.5
p.H520delFs
c.1560delG
1 paper
NM_000368.5
p.S521L
c.1562C>T
2 papers
NM_000368.5
p.S521*
c.1562C>A
1 paper
NM_000368.5
p.S521fs
c.1561_1562fs
1 paper
NM_000368.5
p.A522E
c.1565C>A
1 paper
NM_000368.5
p.K518fs
c.1552_1553fs
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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."