Varaico: Literature-Extracted Genetic Variants

Gene:TSC1
Variant:p.S505F

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.S505F
c.1514C>T
Surrounding Variants
1 paper
NM_000368.5
p.S505A
c.1513T>G
1 paper
NM_000368.5
p.D504_S505delins
c.1512_1513delinsTT
1 paper
NM_000368.5
p.S505insFs
c.1515dupT
1 paper
NM_000368.5
p.P506T
c.1516C>A
1 paper
NM_000368.5
p.P506fs
c.1516_1517fs
1 paper
NM_000368.5
p.S505_P506delFs
c.1515_1516delGA
2 papers
NM_001162427.2
p.P455fs
c.1363_1364fs
NM_000368.5
p.P506fs
c.1516_1517fs
1 paper
NM_000368.5
p.P506insFs
c.1517_1518dupCC
1 paper
NM_000368.5
p.F503_D504insFs
c.1509_1510insAA
1 paper
NM_000368.5
p.F503L
c.1509T>G
1 paper
NM_000368.5
p.F507L
c.1519T>C
1 paper
NM_000368.5
p.F507I
c.1519T>A
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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."