Varaico: Literature-Extracted Genetic Variants

Gene:TSC1
Variant:p.K587R

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
24 papers
NM_000368.5
p.K587R
c.1760A>G
Surrounding Variants
5 papers
NM_000368.5
p.K587*
c.1759A>T
1 paper
NM_000368.5
p.K587_I588insFs
c.1761_1762insTA
1 paper
NM_000368.5
p.C586delFs
c.1758delA
1 paper
NM_000368.5
p.P585_C586del2
c.1753_1757del6
2 papers
NM_000368.5
p.C586*
c.1758T>A
2 papers
NM_000368.5
p.I588fs
c.1762_1763fs
2 papers
NM_000368.5
p.I588delFs
c.1762delT
1 paper
NM_000368.5
p.C586delFs
c.1756delA
1 paper
NM_000368.5
p.I588fs
c.1762_1763fs
1 paper
NM_000368.5
p.C586fs
c.1756_1757fs
1 paper
NM_000368.5
p.P589S
c.1765C>T
1 paper
NM_000368.5
p.P589fs
c.1765_1766fs
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