Varaico: Literature-Extracted Genetic Variants

Gene:TSC1
Variant:p.P558delFs

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.P558delFs
c.1674delG
Surrounding Variants
1 paper
NM_000368.5
p.C559fs
c.1675_1676fs
1 paper
NM_000368.5
p.C559C
c.1677C>T
1 paper
NM_000368.5
p.C559insFs
c.1676dupG
3 papers
NM_000368.5
p.C559*
c.1677C>A
1 paper
NM_000368.5
p.G560S
c.1678G>A
1 paper
NM_000368.5
p.P558S
c.1672C>T
1 paper
NM_000368.5
p.L557fs
c.1669_1670fs
1 paper
NM_000368.5
p.G560ins7
c.1679_1680ins21
1 paper
NM_000368.5
p.G560D
c.1679G>A
1 paper
NM_000368.5
p.L557Q
c.1670T>A
4 papers
NM_000368.5
p.L557delFs
c.1669delG
4 papers
NM_000368.5
p.S561fs
c.1681_1682fs
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