Varaico: Literature-Extracted Genetic Variants

Gene:TSC1
Variant:p.I482_S483delFs

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.I482_S483delFs
c.1446_1447delAT
Surrounding Variants
2 papers
NM_000368.5
p.R484*
c.1450A>T
2 papers
NM_000368.5
p.R484G
c.1450A>G
1 paper
NM_000368.5
p.I482fs
c.1444_1445fs
4 papers
NM_000368.5
p.E485*
c.1453G>T
1 paper
NM_000368.5
p.R484delFs
c.1452delT
1 paper
NM_000368.5
p.A481insFs
c.1442dupC
2 papers
NM_000368.5
p.E485fs
c.1453_1454fs
1 paper
NM_000368.5
p.A481delFs
c.1441delC
1 paper
NM_000368.5
p.A481fs
c.1441_1442fs
1 paper
NM_000368.5
p.E485delFs
c.1453_1454delTC
1 paper
NM_000368.5
p.A480fs
c.1438_1439fs
1 paper
NM_000368.5
p.A480Splc
c.1439-1G>C
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