Varaico: Literature-Extracted Genetic Variants

Gene:TSC1
Variant:p.G514insFs

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.G514insFs
c.1541_1542insC
Surrounding Variants
1 paper
NM_000368.5
p.G514A
c.1541G>C
1 paper
NM_000368.5
p.G514D
c.1541G>A
1 paper
NM_000368.5
p.G514_S515insFs
c.1542_1543insG
1 paper
NM_000368.5
p.G514fs
c.1540_1541fs
1 paper
NM_000368.5
p.S515fs
c.1543_1544fs
2 papers
NM_000368.5
p.P513delFs
c.1538delG
1 paper
NM_000368.5
p.S515Y
c.1544C>A
1 paper
NM_000368.5
p.P513S
c.1537C>T
1 paper
NM_000368.5
p.L512delFs
c.1535_1536delGA
2 papers
NM_000368.5
p.P513fs
c.1537_1538fs
1 paper
NM_000368.5
p.Q516fs
c.1546_1547fs
10 papers
NM_000368.5
p.Q516*
c.1546C>T
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