Varaico: Literature-Extracted Genetic Variants

Gene:TSC1
Variant:p.T339_Q343delFs

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.T339_Q343delFs
c.1016_1029del14
Surrounding Variants
4 papers
NM_000368.5
p.Q343_A344Splc
c.1029+1G>A
1 paper
NM_000368.5
p.Q343delFs
c.1029delT
1 paper
NM_000368.5
p.Q343delFs
c.1027delG
7 papers
NM_000368.5
p.Q343*
c.1027C>T
1 paper
NM_000368.5
p.Q343E
c.1027C>G
1 paper
NM_000368.5
p.Q343fs
c.1027_1028fs
2 papers
NM_000368.5
p.P342delFs
c.1024delG
1 paper
NM_000368.5
p.P342S
c.1024C>T
1 paper
NM_000368.5
p.P341_P342delins
c.1023_1024delinsTT
1 paper
NM_000368.5
p.P342fs
c.1024_1025fs
1 paper
NM_000368.5
p.P341L
c.1022C>T
1 paper
NM_000368.5
p.P341S
c.1021C>T
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