Varaico: Literature-Extracted Genetic Variants

Gene:TSC1
Variant:p.A84insFs

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
4 papers
NM_000368.5
p.A84insFs
c.252dupC
Surrounding Variants
2 papers
NM_000368.5
p.T85fs
c.253_254fs
1 paper
NM_000368.5
p.A84fs
c.250_251fs
1 paper
NM_000368.5
p.A84V
c.251C>T
1 paper
NM_000368.5
p.R86fs
c.256_257fs
26 papers
NM_000368.5
p.A84T
c.250G>A
3 papers
NM_000368.5
p.R86C
c.256C>T
1 paper
NM_000368.5
p.R86G
c.256C>G
1 paper
NM_000368.5
p.R86H
c.257G>A
2 papers
NM_000368.5
p.A83A
c.249C>T
1 paper
NM_000368.5
p.A83fs
c.247_248fs
2 papers
NM_000368.5
p.R86fs
c.256_257fs
1 paper
NM_000368.5
p.R86_L87delins
c.258_259delinsAT
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