Varaico: Literature-Extracted Genetic Variants

Gene:TSC1
Variant:p.E493Q

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
2 papers
NM_000368.5
p.E493Q
c.1477G>C
Surrounding Variants
1 paper
NM_000368.5
p.E493K
c.1477G>A
1 paper
NM_000368.5
p.E493delins
c.1478_1479delinsTT
1 paper
NM_000368.5
p.A492_E493insG
c.1474_1478ins3
1 paper
NM_000368.5
p.A494insFs
c.1481dupC
1 paper
NM_000368.5
p.E495fs
c.1483_1484fs
1 paper
NM_000368.5
p.T490delFs
c.1470delG
1 paper
NM_000368.5
p.T491fs
c.1471_1472fs
1 paper
NM_000368.5
p.E495delFs
c.1484delT
1 paper
NM_000368.5
p.T490insFs
c.1469_1470ins4
1 paper
NM_000368.5
p.P496L
c.1487C>T
1 paper
NM_000368.5
p.P496fs
c.1486_1487fs
1 paper
NM_000368.5
p.E485_I489insFs
c.1455_1465dup11
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."