Varaico: Literature-Extracted Genetic Variants

Gene:TSC1
Variant:p.D686delFs

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.D686delFs
c.2056delC
Surrounding Variants
1 paper
NM_000368.5
p.D686fs
c.2056_2057fs
1 paper
NM_000368.5
p.E687*
c.2059G>T
1 paper
NM_000368.5
p.S685*
c.2054C>G
1 paper
NM_000368.5
p.S685*
c.2054C>A
2 papers
NM_000368.5
p.E687delFs
c.2060delT
1 paper
NM_000368.5
p.R689C
c.2065C>T
2 papers
NM_000368.5
p.R689fs
c.2065_2066fs
2 papers
NM_000368.5
p.R689H
c.2066G>A
1 paper
NM_000368.5
p.R689delFs
c.2065delG
1 paper
NM_000368.5
p.P683L
c.2048C>T
1 paper
NM_000368.5
p.S682_P683delFs
c.2046_2047delGA
1 paper
NM_000368.5
p.P683fs
c.2047_2048fs
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