Varaico: Literature-Extracted Genetic Variants

Gene:TSC1
Variant:p.R484delFs

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.R484delFs
c.1452delT
Surrounding Variants
4 papers
NM_000368.5
p.E485*
c.1453G>T
2 papers
NM_000368.5
p.E485fs
c.1453_1454fs
1 paper
NM_000368.5
p.E485delFs
c.1453_1454delTC
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.I482_S483delFs
c.1446_1447delAT
1 paper
NM_000368.5
p.S487A
c.1459T>G
2 papers
NM_000368.5
p.S487fs
c.1459_1460fs
1 paper
NM_000368.5
p.S487F
c.1460C>T
23 papers
NM_000368.5
p.S487C
c.1460C>G
1 paper
NM_000368.5
p.E488*
c.1462G>T
1 paper
NM_000368.5
p.S487delFs
c.1461delA
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