Varaico: Literature-Extracted Genetic Variants

Gene:TSC1
Variant:p.S538F

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.S538F
c.1613C>T
Surrounding Variants
1 paper
NM_000368.5
p.S538delFs
c.1612_1613delGA
1 paper
NM_000368.5
p.S538fs
c.1612_1613fs
2 papers
NM_000368.5
p.S538delFs
c.1614delG
1 paper
NM_000368.5
p.S539fs
c.1615_1616fs
1 paper
NM_000368.5
p.S539delFs
c.1615delA
1 paper
NM_000368.5
p.S539fs
c.1615_1616fs
1 paper
NM_000368.5
p.H537fs
c.1609_1610fs
3 papers
NM_000368.5
p.L540L
c.1618C>T
1 paper
NM_000368.5
p.L536F
c.1608A>T
1 paper
NM_000368.5
p.L536F
c.1608A>C
1 paper
NM_000368.5
p.L536_H537insFs
c.1608_1609insT
1 paper
NM_000368.5
p.L536delFs
c.1607delA
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