Varaico: Literature-Extracted Genetic Variants

Gene:TSC1
Variant:p.Q527R

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.Q527R
c.1580A>G
Surrounding Variants
1 paper
NM_000368.5
p.Q527fs
c.1579_1580fs
3 papers
NM_000368.5
p.Q527fs
c.1579_1580fs
15 papers
NM_000368.5
p.Q527*
c.1579C>T
1 paper
NM_001162427.2
p.Q476E
c.1426C>G
1 paper
NM_000368.5
p.S526fs
c.1576_1577fs
1 paper
NM_000368.5
p.S526delFs
c.1577delG
3 papers
NM_000368.5
p.Q527delFs
c.1580_1581delCT
1 paper
NM_000368.5
p.G528D
c.1583G>A
1 paper
NM_000368.5
p.S526fs
c.1576_1577fs
1 paper
NM_000368.5
p.S525insFs
c.1574dupG
2 papers
NM_000368.5
p.A529T
c.1585G>A
1 paper
NM_000368.5
p.Q527_G528del2
c.1579_1583del6
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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."