Varaico: Literature-Extracted Genetic Variants

Gene:TSC1
Variant:p.D785fs

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.D785fs
c.2353_2354fs
Surrounding Variants
1 paper
NM_000368.5
p.D785_R786insTT
c.2353_2357ins6
1 paper
NM_000368.5
p.H784_D785insFs
c.2352_2353dupTG
49 papers
NM_000368.5
p.R786*
c.2356C>T
2 papers
NM_000368.5
p.R786fs
c.2356_2357fs
3 papers
NM_000368.5
p.R786Q
c.2357G>A
1 paper
NM_000368.5
p.R786delFs
c.2356delG
1 paper
NM_000368.5
p.R786fs
c.2356_2357fs
2 papers
NM_000368.5
p.R786delFs
c.2357delC
2 papers
NM_000368.5
p.E787*
c.2359G>T
1 paper
NM_000368.5
p.E787K
c.2359G>A
2 papers
NM_000368.5
p.E787fs
c.2359_2360fs
7 papers
NM_000368.5
p.Q783*
c.2347C>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."