Varaico: Literature-Extracted Genetic Variants

Gene:TSC1
Variant:p.E577D

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.E577D
c.1731G>T
Surrounding Variants
1 paper
NM_000368.5
p.E577D
c.1731G>C
7 papers
NM_000368.5
p.E577*
c.1729G>T
1 paper
NM_000368.5
p.T578I
c.1733C>T
1 paper
NM_000368.5
p.L576Fs
c.1727_1728delinsCFs
1 paper
NM_000368.5
p.S579fs
c.1735_1736fs
1 paper
NM_000368.5
p.E577_T578delFs
c.1731_1734del4
5 papers
NM_000368.5
p.L576L
c.1726T>C
1 paper
NM_000368.5
p.S579I
c.1736G>T
1 paper
NM_000368.5
p.L576fs
c.1726_1727fs
1 paper
NM_000368.5
p.S575_S579del0
c.1724_1735del12
3 papers
NM_000368.5
p.S575fs
c.1723_1724fs
1 paper
NM_000368.5
p.S579delFs
c.1736delC
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