Varaico: Literature-Extracted Genetic Variants

Gene:TSC1
Variant:p.L319fs

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.L319fs
c.955_956fs
Surrounding Variants
1 paper
NM_000368.5
p.L319insFs
c.955_956insG
1 paper
NM_000368.5
p.T314_L317del4
c.940_950del12
2 papers
NM_000368.5
p.M318V
c.952A>G
1 paper
NM_000368.5
p.L320fs
c.958_959fs
1 paper
NM_000368.5
p.L320*
c.959T>G
1 paper
NM_000368.5
p.L320*
c.959T>A
1 paper
NM_000368.5
p.L320fs
c.958_959fs
2 papers
NM_000368.5
p.L319_L320del1
c.957_959delAAC
1 paper
NM_000368.5
p.L317M
c.949C>A
1 paper
NM_000368.5
p.R316_L317delins
c.948_949delinsTT
3 papers
NM_000368.5
p.L320del1
c.958_959delTAA
1 paper
NM_000368.5
p.N321I
c.962A>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."