Varaico: Literature-Extracted Genetic Variants

Gene:TSC1
Variant:p.L536*

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
3 papers
NM_000368.5
p.L536*
c.1607T>G
Surrounding Variants
4 papers
NM_000368.5
p.L536*
c.1607T>A
1 paper
NM_000368.5
p.L536I
c.1606T>A
1 paper
NM_000368.5
p.L536F
c.1608A>T
1 paper
NM_000368.5
p.L536F
c.1608A>C
1 paper
NM_000368.5
p.L536_H537insFs
c.1608_1609insT
1 paper
NM_000368.5
p.L536delFs
c.1607delA
1 paper
NM_000368.5
p.L536fs
c.1606_1607fs
1 paper
NM_000368.5
p.H537fs
c.1609_1610fs
1 paper
NM_000368.5
p.E534delFs
c.1602delC
1 paper
NM_000368.5
p.S538fs
c.1612_1613fs
1 paper
NM_000368.5
p.S538F
c.1613C>T
1 paper
NM_000368.5
p.E534*
c.1600G>T
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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."