Varaico: Literature-Extracted Genetic Variants

Gene:TSC1
Variant:p.G639delFs

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.G639delFs
c.1916delC
Surrounding Variants
1 paper
NM_000368.5
p.G639fs
c.1915_1916fs
1 paper
NM_000368.5
p.D638delFs
c.1914delA
1 paper
NM_000368.5
p.V640_P641insFs
c.1920_1921ins4
6 papers
NM_000368.5
p.P641S
c.1921C>T
1 paper
NM_000368.5
p.P641fs
c.1921_1922fs
1 paper
NM_000368.5
p.D638fs
c.1912_1913fs
1 paper
NM_000368.5
p.D638Fs
c.1912delinsCTTGTTCAGCCCCTACTFs
1 paper
NM_000368.5
p.D638N
c.1912G>A
1 paper
NM_000368.5
p.E637delFs
c.1911delT
1 paper
NM_000368.5
p.S642fs
c.1924_1925fs
1 paper
NM_000368.5
p.E637delFs
c.1909delC
8 papers
NM_000368.5
p.E636delFs
c.1907_1908delCT
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