Varaico: Literature-Extracted Genetic Variants

Gene:TSC1
Variant:p.P244delFs

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.P244delFs
c.732delA
Surrounding Variants
41 papers
NM_000368.5
p.R245*
c.733C>T
1 paper
NM_000368.5
p.E241_P244del0
c.721_732del12
1 paper
NM_000368.5
p.R245fs
c.733_734fs
1 paper
NM_000368.5
p.P244delFs
c.731delG
2 papers
NM_000368.5
p.R245Q
c.734G>A
1 paper
NM_000368.5
p.R245delins
c.733_734delinsAA
1 paper
NM_000368.5
p.P244fs
c.730_731fs
2 papers
NM_000368.5
p.R246fs
c.736_737fs
1 paper
NM_000368.5
p.D243_P244delins
c.729_730delinsAA
1 paper
NM_001162427.2
p.K187_D192del0
c.559_576del18
2 papers
NM_000368.5
p.R246G
c.736A>G
1 paper
NM_000368.5
p.R246T
c.737G>C
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