Varaico: Literature-Extracted Genetic Variants

Gene:TSC1
Variant:p.R715Q

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
2 papers
NM_000368.5
p.R715Q
c.2144G>A
Surrounding Variants
2 papers
NM_000368.5
p.L714delFs
c.2142delG
1 paper
NM_000368.5
p.R715fs
c.2143_2144fs
1 paper
NM_000368.5
p.R715W
c.2143C>T
1 paper
NM_000368.5
p.R715Fs
c.2143delinsTTAAACATGCGGCTCCTCCGCAAFs
2 papers
NM_000368.5
p.N716fs
c.2146_2147fs
4 papers
NM_000368.5
p.R715delFs
c.2145delC
2 papers
NM_000368.5
p.L714F
c.2140C>T
1 paper
NM_000368.5
p.N716N
c.2148C>T
3 papers
NM_000368.5
p.N716fs
c.2146_2147fs
1 paper
NM_000368.5
p.H712_A713delFs
c.2135_2139del5
1 paper
NM_000368.5
p.Q710_A713delFs
c.2129_2139del11
1 paper
NM_000368.5
p.N716delins
c.2147_2148delinsTT
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."