Varaico: Literature-Extracted Genetic Variants

Gene:TSC1
Variant:p.L698_Y704delFs

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.L698_Y704delFs
c.2094_2110del17
Surrounding Variants
2 papers
NM_000368.5
p.Y704C
c.2111A>G
1 paper
NM_000368.5
p.Y704insFs
c.2110dupT
1 paper
NM_000368.5
p.Y704delFs
c.2110delA
1 paper
NM_000368.5
p.L703_Y704delFs
c.2109_2110delAG
1 paper
NM_000368.5
p.Q701_L703insFs
c.2103_2109dup7
10 papers
NM_000368.5
p.Y704*
c.2112T>G
10 papers
NM_000368.5
p.Y704*
c.2112T>A
1 paper
NM_000368.5
p.Y704fs
c.2110_2111fs
1 paper
NM_000368.5
p.L703_Y704delFs
c.2107_2111del5
8 papers
NM_000368.5
p.Y704delFs
c.2111_2112delAT
1 paper
NM_000368.5
p.L702_E705delins
c.2105_2113delinsAAA
1 paper
NM_000368.5
p.L703fs
c.2107_2108fs
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