Varaico: Literature-Extracted Genetic Variants

Gene:TSC1
Variant:p.S530_V531del2

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.S530_V531del2
c.1588_1592del6
Surrounding Variants
1 paper
NM_000368.5
p.N532N
c.1596C>T
1 paper
NM_000368.5
p.V531V
c.1593G>A
1 paper
NM_000368.5
p.P533S
c.1597C>T
1 paper
NM_000368.5
p.P533A
c.1597C>G
1 paper
NM_000368.5
p.V531delFs
c.1591delC
1 paper
NM_000368.5
p.P533H
c.1598C>A
1 paper
NM_000368.5
p.H520_N532del13
c.1558_1595del39
1 paper
NM_000368.5
p.V531M
c.1591G>A
1 paper
NM_000368.5
p.V531fs
c.1591_1592fs
1 paper
NM_000368.5
p.E534*
c.1600G>T
1 paper
NM_000368.5
p.E534fs
c.1600_1601fs
4 papers
NM_000368.5
p.S530T
c.1589G>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."