Varaico: Literature-Extracted Genetic Variants

Gene:TSC2
Variant:p.L1142_D1143insFs

TSC2

2,533 papers

RefSeq Summary

This gene is a tumor suppressor gene that encodes the growth inhibitory protein tuberin. Tuberin interacts with hamartin to form the TSC protein complex which functions in the control of cell growth. ...

Pfam Domains

DUF3384aa 54–470UCSCDomain of unknown function (DUF3384)
Tuberinaa 555–903UCSCTuberin
Rap_GAPaa 1561–1749UCSCRap/ran-GAP

Gene Aliases

HGNC Name

TSC complex subunit 2

HGNC Previous Symbol

TSC4

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000548.5
p.L1142_D1143insFs
c.3426_3427insT
Surrounding Variants
1 paper
NM_000548.5
p.D1143fs
c.3427_3428fs
1 paper
NM_000548.5
p.D1143fs
c.3427_3428fs
1 paper
NM_000548.5
p.D1143G
c.3428A>G
1 paper
NM_000548.5
p.L1142fs
c.3424_3425fs
1 paper
NM_000548.5
p.L1142insFs
c.3425dupT
1 paper
NM_000548.5
p.D1143D
c.3429C>T
9 papers
NM_000548.5
p.A1141V
c.3422C>T
1 paper
NM_000548.5
p.A1141delins
c.3422_3423delinsTT
10 papers
NM_000548.5
p.V1144M
c.3430G>A
3 papers
NM_000548.5
p.V1144L
c.3430G>C
3 papers
NM_000548.5
p.V1144L
c.3430G>T
20 papers
NM_000548.5
p.A1141T
c.3421G>A
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