Varaico: Literature-Extracted Genetic Variants

Gene:TSC1
Variant:p.G681Splc

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.G681Splc
c.2042-5A>G
Surrounding Variants
1 paper
NM_000368.5
p.G681R
c.2041G>C
2 papers
NM_000368.5
p.G681S
c.2041G>A
1 paper
NM_000368.5
p.G681D
c.2042G>A
3 papers
NM_000368.5
p.G681fs
c.2041_2042fs
1 paper
NM_000368.5
p.S682Y
c.2045C>A
1 paper
NM_000368.5
p.P683fs
c.2047_2048fs
1 paper
NM_000368.5
p.P683insFs
c.2047_2048insTG
1 paper
NM_000368.5
p.P683L
c.2048C>T
1 paper
NM_000368.5
p.S682_P683delFs
c.2046_2047delGA
1 paper
NM_000368.5
p.S685*
c.2054C>G
1 paper
NM_000368.5
p.S685*
c.2054C>A
1 paper
NM_000368.5
p.D686fs
c.2056_2057fs
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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."