Varaico: Literature-Extracted Genetic Variants

Gene:TSC1
Variant:p.C119_K121del3

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.C119_K121del3
c.355_362del9
Surrounding Variants
2 papers
NM_000368.5
p.K121_M122Splc
c.363+1G>T
2 papers
NM_000368.5
p.K121_M122Splc
c.363+1G>A
2 papers
NM_000368.5
p.K121_M122Splc
c.363+2T>C
2 papers
NM_000368.5
p.K121N
c.363G>T
2 papers
NM_000368.5
p.K121N
c.363G>C
2 papers
NM_000368.5
p.K121K
c.363G>A
1 paper
NM_000368.5
p.C119_K121delFs
c.355_362del8
1 paper
NM_000368.5
p.K121M
c.362A>T
4 papers
NM_000368.5
p.K121R
c.362A>G
1 paper
NM_000368.5
p.K121*
c.361A>T
1 paper
NM_000368.5
p.L120L
c.360C>G
1 paper
NM_000368.5
p.L120F
c.358C>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."