Varaico: Literature-Extracted Genetic Variants

Gene:TSC1
Variant:p.P645L

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.P645L
c.1934C>T
Surrounding Variants
3 papers
NM_000368.5
p.M646V
c.1936A>G
2 papers
NM_000368.5
p.S644P
c.1930T>C
1 paper
NM_000368.5
p.P641_T643delFs
c.1923_1929del7
1 paper
NM_000368.5
p.M646delFs
c.1936_1937delAT
1 paper
NM_000368.5
p.E647*
c.1939G>T
1 paper
NM_000368.5
p.T643_M646del4
c.1927_1937del12
1 paper
NM_000368.5
p.E647fs
c.1939_1940fs
1 paper
NM_000368.5
p.S642_T643insFs
c.1924_1927dup4
1 paper
NM_000368.5
p.E647V
c.1940A>T
1 paper
NM_000368.5
p.T643fs
c.1927_1928fs
1 paper
NM_000368.5
p.V648fs
c.1942_1943fs
1 paper
NM_000368.5
p.V648A
c.1943T>C
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