Varaico: Literature-Extracted Genetic Variants

Gene:TSC1
Variant:p.Q758*

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.Q758*
c.2272C>T
Surrounding Variants
1 paper
NM_000368.5
p.Q758K
c.2272C>A
1 paper
NM_000368.5
p.E757delFs
c.2271delT
1 paper
NM_000368.5
p.K756_E757delFs
c.2268_2271del4
1 paper
NM_000368.5
p.E757_Q758insFs
c.2271_2272insT
1 paper
NM_000368.5
p.E757*
c.2269G>T
1 paper
NM_000368.5
p.A759T
c.2275G>A
1 paper
NM_000368.5
p.K756fs
c.2266_2267fs
1 paper
NM_000368.5
p.Q758_A759insFs
c.2273_2276dup4
1 paper
NM_000368.5
p.Q755_K756delFs
c.2263_2266del4
2 papers
NM_000368.5
p.R760*
c.2278A>T
1 paper
NM_000368.5
p.K756*
c.2266A>T
1 paper
NM_000368.5
p.R760fs
c.2278_2279fs
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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."