Varaico: Literature-Extracted Genetic Variants

Gene:TSC1
Variant:p.R692delFs

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.R692delFs
c.2074delG
Surrounding Variants
2 papers
NM_000368.5
p.L691_R692insFs
c.2071_2074dup4
1 paper
NM_000368.5
p.T690_R692insFs
c.2068_2074dup7
10 papers
NM_000368.5
p.R692Q
c.2075G>A
1 paper
NM_000368.5
p.L691_R692Fs
c.2072_2075delinsAGTAAAFs
57 papers
NM_000368.5
p.R692*
c.2074C>T
1 paper
NM_000368.5
p.T690_R692delins
c.2069_2074delinsACACTT
2 papers
NM_000368.5
p.R692fs
c.2074_2075fs
2 papers
NM_000368.5
p.D693H
c.2077G>C
1 paper
NM_000368.5
p.L691L
c.2073C>T
1 paper
NM_000368.5
p.L691delFs
c.2071delG
1 paper
NM_000368.5
p.D693D
c.2079C>T
1 paper
NM_000368.5
p.L691V
c.2071C>G
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