Varaico: Literature-Extracted Genetic Variants

Gene:TP53
Variant:p.Y126H

TP53

19,071 papers

RefSeq Summary

This gene encodes a tumor suppressor protein containing transcriptional activation, DNA binding, and oligomerization domains. The encoded protein responds to diverse cellular stresses to regulate expr...

Pfam Domains

P53_TADaa 6–30UCSCP53 transactivation motif
TAD2aa 35–59UCSCTransactivation domain 2
P53aa 99–289UCSCP53 DNA-binding domain
P53_tetrameraa 319–358UCSCP53 tetramerisation motif

Gene Aliases

HGNC Name

tumor protein p53

HGNC Alias Symbols

p53; LFS1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
52 papers
NM_000546.6
p.Y126H
c.376T>C
Surrounding Variants
1 paper
NM_000546.6
p.Y126insFs
c.376_377insG
1 paper
NM_000546.6
p.Y126insFs
c.376_377insC
78 papers
NM_000546.6
p.Y126D
c.376T>G
46 papers
NM_000546.6
p.Y126N
c.376T>A
5 papers
NM_000546.6
p.Y126fs
c.376_377fs
35 papers
NM_000546.6
p.T125_Y126Splc
c.376-1G>T
20 papers
NM_000546.6
p.T125_Y126Splc
c.376-1G>C
131 papers
NM_000546.6
p.T125_Y126Splc
c.376-1G>A
9 papers
NM_000546.6
p.Y126F
c.377A>T
163 papers
NM_000546.6
p.Y126C
c.377A>G
27 papers
NM_000546.6
p.Y126S
c.377A>C
1 paper
NM_000546.6
p.Y126insFs
c.377_378insT
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."