Varaico: Literature-Extracted Genetic Variants

Gene:TSC1
Variant:p.C586fs

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.C586fs
c.1756_1757fs
Surrounding Variants
1 paper
NM_000368.5
p.C586delFs
c.1756delA
2 papers
NM_000368.5
p.C586*
c.1758T>A
1 paper
NM_000368.5
p.P585fs
c.1753_1754fs
2 papers
NM_000368.5
p.P585S
c.1753C>T
1 paper
NM_001162427.2
p.P534A
c.1600C>G
1 paper
NM_000368.5
p.S584delFs
c.1751_1752delAC
1 paper
NM_000368.5
p.S584del1
c.1750_1751delACT
5 papers
NM_000368.5
p.K587*
c.1759A>T
1 paper
NM_000368.5
p.C586delFs
c.1758delA
1 paper
NM_000368.5
p.P585_C586del2
c.1753_1757del6
1 paper
NM_000368.5
p.R570_P583del14
c.1708_1748del42
24 papers
NM_000368.5
p.K587R
c.1760A>G
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