Varaico: Literature-Extracted Genetic Variants

Gene:TSC1
Variant:p.G305fs

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
2 papers
NM_000368.5
p.G305fs
c.913_914fs
Surrounding Variants
5 papers
NM_000368.5
p.G305W
c.913G>T
5 papers
NM_000368.5
p.G305R
c.913G>C
6 papers
NM_000368.5
p.G305R
c.913G>A
1 paper
NM_000368.5
p.C306G
c.916T>G
1 paper
NM_000368.5
p.C306S
c.916T>A
1 paper
NM_000368.5
p.C306fs
c.916_917fs
1 paper
NM_000368.5
p.G305Splc
c.914-2A>G
1 paper
NM_000368.5
p.C306insFs
c.916dupT
1 paper
NM_000368.5
p.C306S
c.917G>C
1 paper
NM_000368.5
p.C306W
c.918T>G
1 paper
NM_000368.5
p.A307fs
c.919_920fs
1 paper
NM_000368.5
p.A307V
c.920C>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."