Varaico: Literature-Extracted Genetic Variants

Gene:TSC1
Variant:p.H240Q

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.H240Q
c.720T>G
Surrounding Variants
1 paper
NM_000368.5
p.H240_E241insFs
c.720_721insA
1 paper
NM_000368.5
p.H240Q
c.720T>A
1 paper
NM_001162427.2
p.K187_H189delFs
c.559_565del7
2 papers
NM_000368.5
p.E241*
c.721G>T
1 paper
NM_000368.5
p.E241K
c.721G>A
1 paper
NM_000368.5
p.E241fs
c.721_722fs
1 paper
NM_000368.5
p.E241delins
c.722_723delinsTT
1 paper
NM_000368.5
p.L242fs
c.724_725fs
1 paper
NM_000368.5
p.L242L
c.724C>T
1 paper
NM_000368.5
p.E241insFs
c.723dupA
1 paper
NM_000368.5
p.D239A
c.716A>C
1 paper
NM_001162427.2
p.S186_D188del0
c.557_562del6
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