Varaico: Literature-Extracted Genetic Variants

Gene:TSC1
Variant:p.L556_F557del1

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_001162427.2
p.L556_F557del1
c.1668_1670delAAA
Surrounding Variants
8 papers
NM_000368.5
p.E609*
c.1825G>T
2 papers
NM_000368.5
p.E609insFs
c.1825_1826insT
1 paper
NM_000368.5
p.F608insFs
c.1823_1824dupTT
1 paper
NM_000368.5
p.E609Q
c.1825G>C
1 paper
NM_000368.5
p.E609K
c.1825G>A
3 papers
NM_000368.5
p.F608delFs
c.1824delA
1 paper
NM_000368.5
p.F608delFs
c.1823_1824delAA
1 paper
NM_000368.5
p.E609fs
c.1825_1826fs
3 papers
NM_000368.5
p.F608fs
c.1822_1823fs
1 paper
NM_001162427.2
p.L556_E558del0
c.1667_1672del6
1 paper
NM_001162427.2
p.P550_E558delFs
c.1648_1672del25
1 paper
NM_001162427.2
p.P551_F557del0
c.1652_1669del18
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