Varaico: Literature-Extracted Genetic Variants

Gene:TSC1
Variant:p.M322fs

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
2 papers
NM_000368.5
p.M322fs
c.964_965fs
Surrounding Variants
51 papers
NM_000368.5
p.M322T
c.965T>C
4 papers
NM_000368.5
p.M322insFs
c.965dupT
2 papers
NM_000368.5
p.M322fs
c.964_965fs
1 paper
NM_000368.5
p.L320_M322delFs
c.959_965del7
1 paper
NM_000368.5
p.N321I
c.962A>T
1 paper
NM_000368.5
p.N321S
c.962A>G
1 paper
NM_000368.5
p.P323T
c.967C>A
1 paper
NM_000368.5
p.M322delFs
c.966delC
3 papers
NM_000368.5
p.L320del1
c.958_959delTAA
1 paper
NM_000368.5
p.P323Q
c.968C>A
1 paper
NM_000368.5
p.L320fs
c.958_959fs
2 papers
NM_000368.5
p.L319_L320del1
c.957_959delAAC
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