Varaico: Literature-Extracted Genetic Variants

Gene:TSC1
Variant:p.R316_L317delins

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.R316_L317delins
c.948_949delinsTT
Surrounding Variants
1 paper
NM_000368.5
p.L317M
c.949C>A
1 paper
NM_000368.5
p.R316Q
c.947G>A
1 paper
NM_000368.5
p.R316fs
c.946_947fs
1 paper
NM_000368.5
p.R316W
c.946C>T
1 paper
NM_000368.5
p.S315insFs
c.945dupT
2 papers
NM_000368.5
p.M318V
c.952A>G
1 paper
NM_000368.5
p.T314_L317del4
c.940_950del12
1 paper
NM_000368.5
p.S315insFs
c.944_945insA
1 paper
NM_000368.5
p.S315delFs
c.943delA
1 paper
NM_000368.5
p.L319insFs
c.955_956insG
1 paper
NM_000368.5
p.S315T
c.943T>A
1 paper
NM_000368.5
p.L319fs
c.955_956fs
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