Varaico: Literature-Extracted Genetic Variants

Gene:TSC1
Variant:p.P496fs

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.P496fs
c.1486_1487fs
Surrounding Variants
1 paper
NM_000368.5
p.V497fs
c.1489_1490fs
1 paper
NM_000368.5
p.P496L
c.1487C>T
1 paper
NM_000368.5
p.V497E
c.1490T>A
2 papers
NM_000368.5
p.V497_V498insFs
c.1491_1492insCC
2 papers
NM_000368.5
p.V497fs
c.1489_1490fs
1 paper
NM_000368.5
p.E495delFs
c.1484delT
1 paper
NM_000368.5
p.V498fs
c.1492_1493fs
1 paper
NM_000368.5
p.V497insFs
c.1490_1491dupTG
1 paper
NM_000368.5
p.V498I
c.1492G>A
1 paper
NM_000368.5
p.V497delFs
c.1490_1491delCA
1 paper
NM_000368.5
p.E495fs
c.1483_1484fs
1 paper
NM_000368.5
p.A494insFs
c.1481dupC
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