Varaico: Literature-Extracted Genetic Variants

Gene:TSC1
Variant:p.D605_H606insA

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.D605_H606insA
c.1813_1817ins3
Surrounding Variants
1 paper
NM_000368.5
p.D605H
c.1813G>C
2 papers
NM_000368.5
p.P602_Y604del3
c.1804_1811del9
2 papers
NM_000368.5
p.Y604*
c.1812T>G
2 papers
NM_000368.5
p.Y604*
c.1812T>A
1 paper
NM_000368.5
p.Y604C
c.1811A>G
1 paper
NM_000368.5
p.G597_P603del7
c.1789_1808del21
1 paper
NM_000368.5
p.Y604fs
c.1810_1811fs
1 paper
NM_000368.5
p.H606fs
c.1816_1817fs
1 paper
NM_000368.5
p.H606Y
c.1816C>T
1 paper
NM_000368.5
p.H606_L607insA
c.1816_1820ins3
1 paper
NM_000368.5
p.P603insFs
c.1808dupC
2 papers
NM_000368.5
p.P603fs
c.1807_1808fs
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."