Varaico: Literature-Extracted Genetic Variants

Gene:TSC1
Variant:p.L330delins

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.L330delins
c.988_989delinsTT
Surrounding Variants
2 papers
NM_000368.5
p.L330fs
c.988_989fs
1 paper
NM_000368.5
p.L330insFs
c.988_989insG
1 paper
NM_000368.5
p.L330insFs
c.988_989insA
1 paper
NM_000368.5
p.L330insFs
c.988_989insGA
2 papers
NM_000368.5
p.L330M
c.988C>A
1 paper
NM_000368.5
p.L330insFs
c.988dupC
2 papers
NM_000368.5
p.L330delFs
c.988delG
15 papers
NM_000368.5
p.L330insFs
c.989dupT
2 papers
NM_000368.5
p.L330insFs
c.989_990insTT
3 papers
NM_000368.5
p.L330fs
c.988_989fs
4 papers
NM_000368.5
p.L330delFs
c.989delA
1 paper
NM_000368.5
p.L330delFs
c.988_989delAG
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