Varaico: Literature-Extracted Genetic Variants

Gene:TSC1
Variant:p.T314insFs

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.T314insFs
c.940_941insCT
Surrounding Variants
3 papers
NM_000368.5
p.T314M
c.941C>T
1 paper
NM_000368.5
p.Y312_T314delFs
c.934_940del7
1 paper
NM_000368.5
p.S313F
c.938C>T
1 paper
NM_000368.5
p.S313Y
c.938C>A
1 paper
NM_000368.5
p.S313P
c.937T>C
1 paper
NM_000368.5
p.S315T
c.943T>A
1 paper
NM_000368.5
p.S313fs
c.937_938fs
6 papers
NM_000368.5
p.Y312*
c.936C>G
1 paper
NM_000368.5
p.S315insFs
c.944_945insA
1 paper
NM_000368.5
p.Y312insFs
c.935dupA
5 papers
NM_000368.5
p.Y312*
c.936C>A
1 paper
NM_000368.5
p.S315delFs
c.943delA
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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."