Varaico: Literature-Extracted Genetic Variants

Gene:TSC1
Variant:p.T339insFs

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.T339insFs
c.1015dupA
Surrounding Variants
1 paper
NM_000368.5
p.T339I
c.1016C>T
1 paper
NM_000368.5
p.T339T
c.1017T>A
1 paper
NM_000368.5
p.T339fs
c.1015_1016fs
1 paper
NM_000368.5
p.R336_T339delFs
c.1007_1016del10
1 paper
NM_000368.5
p.L337_I338del2
c.1009_1013del6
1 paper
NM_000368.5
p.E340*
c.1018G>T
1 paper
NM_000368.5
p.I338fs
c.1012_1013fs
1 paper
NM_000368.5
p.E340fs
c.1018_1019fs
1 paper
NM_000368.5
p.T335_L337del3
c.1003_1010del9
1 paper
NM_000368.5
p.T339_E340delFs
c.1017_1018delCA
1 paper
NM_000368.5
p.I338_E340delFs
c.1013_1019del7
1 paper
NM_000368.5
p.P341S
c.1021C>T
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