Varaico: Literature-Extracted Genetic Variants

Gene:TSC1
Variant:p.W750*

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
5 papers
NM_000368.5
p.W750*
c.2250G>A
Surrounding Variants
1 paper
NM_000368.5
p.W750insFs
c.2248_2249dupTG
1 paper
NM_000368.5
p.W750fs
c.2248_2249fs
6 papers
NM_000368.5
p.W750*
c.2249G>A
2 papers
NM_000368.5
p.K751fs
c.2251_2252fs
1 paper
NM_000368.5
p.W750_K751delins
c.2250_2251delinsTT
1 paper
NM_000368.5
p.W750R
c.2248T>C
1 paper
NM_000368.5
p.W750R
c.2248T>A
1 paper
NM_000368.5
p.W750fs
c.2248_2249fs
1 paper
NM_000368.5
p.M749I
c.2247G>T
1 paper
NM_000368.5
p.M749I
c.2247G>C
1 paper
NM_000368.5
p.K751K
c.2253G>A
1 paper
NM_000368.5
p.M749I
c.2247G>A
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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."