Varaico: Literature-Extracted Genetic Variants

Gene:TSC1
Variant:p.M223delins

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.M223delins
c.667_668delinsTT
Surrounding Variants
1 paper
NM_000368.5
p.M223fs
c.667_668fs
1 paper
NM_000368.5
p.P222delFs
c.665delG
2 papers
NM_000368.5
p.M223I
c.669G>T
1 paper
NM_000368.5
p.M223insFs
c.668dupT
2 papers
NM_000368.5
p.M223I
c.669G>C
2 papers
NM_000368.5
p.M223I
c.669G>A
1 paper
NM_000368.5
p.P222L
c.665C>T
1 paper
NM_000368.5
p.P222delins
c.664_665delinsTT
3 papers
NM_000368.5
p.P222fs
c.664_665fs
10 papers
NM_000368.5
p.M224R
c.671T>G
5 papers
NM_000368.5
p.K221_P222Splc
c.664-1G>A
1 paper
NM_000368.5
p.M224I
c.672G>A
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