Varaico: Literature-Extracted Genetic Variants

Gene:TSC1
Variant:p.E577_T578delFs

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.E577_T578delFs
c.1731_1734del4
Surrounding Variants
1 paper
NM_000368.5
p.S579fs
c.1735_1736fs
1 paper
NM_000368.5
p.S579I
c.1736G>T
1 paper
NM_000368.5
p.S575_S579del0
c.1724_1735del12
1 paper
NM_000368.5
p.S579delFs
c.1736delC
1 paper
NM_000368.5
p.T578I
c.1733C>T
2 papers
NM_000368.5
p.I580fs
c.1738_1739fs
2 papers
NM_000368.5
p.S579insFs
c.1737dupT
1 paper
NM_000368.5
p.T578_S579delFs
c.1734_1737del4
1 paper
NM_000368.5
p.E577D
c.1731G>T
1 paper
NM_000368.5
p.E577D
c.1731G>C
1 paper
NM_000368.5
p.I580fs
c.1738_1739fs
1 paper
NM_000368.5
p.I580delFs
c.1738_1739delAT
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