Varaico: Literature-Extracted Genetic Variants

Gene:TSC1
Variant:p.I489F

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.I489F
c.1465A>T
Surrounding Variants
1 paper
NM_000368.5
p.I489fs
c.1465_1466fs
1 paper
NM_000368.5
p.E485_I489insFs
c.1455_1465dup11
1 paper
NM_000368.5
p.E488D
c.1464G>T
1 paper
NM_000368.5
p.E488*
c.1462G>T
1 paper
NM_000368.5
p.S487delFs
c.1461delA
2 papers
NM_000368.5
p.L486_S487delFs
c.1458_1461del4
1 paper
NM_000368.5
p.T490insFs
c.1469_1470ins4
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.S487A
c.1459T>G
2 papers
NM_000368.5
p.S487fs
c.1459_1460fs
1 paper
NM_000368.5
p.T490delFs
c.1470delG
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