Varaico: Literature-Extracted Genetic Variants

Gene:TSC1
Variant:p.K630R

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.K630R
c.1889A>G
Surrounding Variants
2 papers
NM_000368.5
p.K630fs
c.1888_1889fs
15 papers
NM_000368.5
p.K630fs
c.1888_1889fs
4 papers
NM_000368.5
p.K629fs
c.1885_1886fs
1 paper
NM_000368.5
p.K630insFs
c.1890dupA
1 paper
NM_000368.5
p.K629insFs
c.1886dupA
1 paper
NM_000368.5
p.A631T
c.1891G>A
3 papers
NM_000368.5
p.K629delFs
c.1886delT
1 paper
NM_000368.5
p.A631fs
c.1891_1892fs
1 paper
NM_000368.5
p.A631E
c.1892C>A
24 papers
NM_000368.5
p.K630_A631delFs
c.1888_1891del4
1 paper
NM_000368.5
p.K629M
c.1886A>T
2 papers
NM_000368.5
p.K629fs
c.1885_1886fs
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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."