Varaico: Literature-Extracted Genetic Variants

Gene:TSC1
Variant:p.Q765H

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.Q765H
c.2295G>C
Surrounding Variants
1 paper
NM_000368.5
p.Q765H
c.2295G>T
1 paper
NM_000368.5
p.E766*
c.2296G>T
1 paper
NM_000368.5
p.R760_Q765delFs
c.2280_2295del16
1 paper
NM_000368.5
p.Q765P
c.2294A>C
9 papers
NM_000368.5
p.Q765*
c.2293C>T
1 paper
NM_000368.5
p.L764delFs
c.2291delA
1 paper
NM_000368.5
p.Q767fs
c.2299_2300fs
5 papers
NM_000368.5
p.Q767*
c.2299C>T
1 paper
NM_000368.5
p.L764fs
c.2290_2291fs
1 paper
NM_000368.5
p.R768C
c.2302C>T
4 papers
NM_000368.5
p.R768H
c.2303G>A
4 papers
NM_000368.5
p.Q763*
c.2287C>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."