Varaico: Literature-Extracted Genetic Variants

Gene:TSC1
Variant:p.H105_L113delFs

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.H105_L113delFs
c.313_337del25
Surrounding Variants
2 papers
NM_000368.5
p.L113*
c.338T>A
2 papers
NM_000368.5
p.L113L
c.337T>C
2 papers
NM_000368.5
p.P111_L113delins
c.333_337delinsAAAAGAGG
1 paper
NM_000368.5
p.P111_L113delins
c.333_337delinsAA
1 paper
NM_000368.5
p.L113insFs
c.338dupT
1 paper
NM_000368.5
p.L113fs
c.337_338fs
1 paper
NM_000368.5
p.L113delFs
c.338delA
1 paper
NM_000368.5
p.L113delFs
c.337_338delAA
1 paper
NM_000368.5
p.L113fs
c.337_338fs
1 paper
NM_000368.5
p.L112_L113del1
c.335_337delAAA
1 paper
NM_000368.5
p.L112insFs
c.334_335dupCT
4 papers
NM_000368.5
p.P114S
c.340C>T
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