Varaico: Literature-Extracted Genetic Variants

Gene:TSC1
Variant:p.E625G

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.E625G
c.1874A>G
Surrounding Variants
3 papers
NM_000368.5
p.E625*
c.1873G>T
2 papers
NM_000368.5
p.E626*
c.1876G>T
2 papers
NM_000368.5
p.E626K
c.1876G>A
1 paper
NM_000368.5
p.E626insFs
c.1877_1878insT
1 paper
NM_000368.5
p.T624fs
c.1870_1871fs
1 paper
NM_001162427.2
p.E558_K572del0
c.1673_1714del42
1 paper
NM_000368.5
p.L627M
c.1879C>A
1 paper
NM_001162427.2
p.F568_L576del0
c.1704_1727del24
1 paper
NM_000368.5
p.K623fs
c.1867_1868fs
1 paper
NM_000368.5
p.K623*
c.1867A>T
1 paper
NM_000368.5
p.R622delFs
c.1866delC
1 paper
NM_000368.5
p.I621_R622delFs
c.1863_1866del4
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."