Varaico: Literature-Extracted Genetic Variants

Gene:TSC1
Variant:p.R622W

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.R622W
c.1864A>T
Surrounding Variants
1 paper
NM_000368.5
p.R622T
c.1865G>C
1 paper
NM_000368.5
p.I621M
c.1863C>G
1 paper
NM_000368.5
p.K623fs
c.1867_1868fs
1 paper
NM_000368.5
p.K623*
c.1867A>T
1 paper
NM_000368.5
p.R622delFs
c.1866delC
1 paper
NM_000368.5
p.I621_R622delFs
c.1863_1866del4
1 paper
NM_000368.5
p.V620fs
c.1858_1859fs
1 paper
NM_000368.5
p.V620delFs
c.1858_1859delAC
1 paper
NM_000368.5
p.V620D
c.1859T>A
1 paper
NM_000368.5
p.T624fs
c.1870_1871fs
1 paper
NM_000368.5
p.H618insFs
c.1854dupT
1 paper
NM_000368.5
p.F619delFs
c.1857delA
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