Varaico: Literature-Extracted Genetic Variants

Gene:TSC1
Variant:p.R246delFs

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.R246delFs
c.736delT
Surrounding Variants
1 paper
NM_000368.5
p.R246T
c.737G>C
6 papers
NM_000368.5
p.R246K
c.737G>A
4 papers
NM_000368.5
p.R246Splc
c.737+1G>T
2 papers
NM_000368.5
p.R246Splc
c.737+1G>C
1 paper
NM_000368.5
p.R246Splc
c.737+1G>A
2 papers
NM_000368.5
p.R246fs
c.736_737fs
2 papers
NM_000368.5
p.R246G
c.736A>G
1 paper
NM_000368.5
p.R246Splc
c.737+2T>C
2 papers
NM_000368.5
p.R246delFs
c.737delC
2 papers
NM_000368.5
p.R245Q
c.734G>A
1 paper
NM_000368.5
p.R245delins
c.733_734delinsAA
5 papers
NM_000368.5
p.R246Splc
c.737+3A>G
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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."