Varaico: Literature-Extracted Genetic Variants

Gene:TSC1
Variant:p.K614delFs

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.K614delFs
c.1841delT
Surrounding Variants
1 paper
NM_001162427.2
p.D554_K563del0
c.1662_1688del27
1 paper
NM_000368.5
p.K614fs
c.1840_1841fs
1 paper
NM_001162427.2
p.F557_P562del6
c.1669_1685del18
1 paper
NM_001162427.2
p.F557_P562del0
c.1671_1685del15
2 papers
NM_000368.5
p.A616T
c.1846G>A
1 paper
NM_000368.5
p.P613L
c.1838C>T
1 paper
NM_000368.5
p.P613Q
c.1838C>A
1 paper
NM_000368.5
p.A616fs
c.1846_1847fs
2 papers
NM_000368.5
p.A616delFs
c.1846delC
1 paper
NM_001162427.2
p.D554_L561del0
c.1660_1683del24
1 paper
NM_001162427.2
p.L556_L561del0
c.1667_1681del15
1 paper
NM_000368.5
p.L612*
c.1835T>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."