Varaico: Literature-Extracted Genetic Variants

Gene:TSC1
Variant:p.R336delFs

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.R336delFs
c.1006delG
Surrounding Variants
4 papers
NM_000368.5
p.R336Q
c.1007G>A
1 paper
NM_000368.5
p.R336fs
c.1006_1007fs
8 papers
NM_000368.5
p.R336W
c.1006C>T
1 paper
NM_000368.5
p.R336G
c.1006C>G
1 paper
NM_000368.5
p.T335insFs
c.1005dupA
3 papers
NM_000368.5
p.T335delFs
c.1004delG
1 paper
NM_000368.5
p.T335Fs
c.1003delinsGAFs
1 paper
NM_000368.5
p.T335fs
c.1003_1004fs
1 paper
NM_000368.5
p.T335_L337del3
c.1003_1010del9
9 papers
NM_000368.5
p.S334L
c.1001C>T
5 papers
NM_000368.5
p.S334*
c.1001C>A
1 paper
NM_000368.5
p.S334fs
c.1000_1001fs
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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."