Varaico: Literature-Extracted Genetic Variants

Gene:TSC1
Variant:p.S777fs

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.S777fs
c.2329_2330fs
Surrounding Variants
2 papers
NM_000368.5
p.S777delFs
c.2329delT
1 paper
NM_000368.5
p.H776_S777delFs
c.2328_2329delTG
1 paper
NM_000368.5
p.Q778fs
c.2332_2333fs
4 papers
NM_000368.5
p.Q778*
c.2332C>T
1 paper
NM_000368.5
p.S777fs
c.2329_2330fs
1 paper
NM_000368.5
p.Q778delFs
c.2332delG
1 paper
NM_000368.5
p.H776Q
c.2328C>A
1 paper
NM_000368.5
p.I779F
c.2335A>T
1 paper
NM_000368.5
p.S777_Q778del2
c.2329_2333del6
1 paper
NM_000368.5
p.H776fs
c.2326_2327fs
1 paper
NM_000368.5
p.I779insFs
c.2336dupT
1 paper
NM_000368.5
p.L775insFs
c.2324_2325ins8
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