Varaico: Literature-Extracted Genetic Variants

Gene:TP53
Variant:p.M246K

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
45 papers
NM_000546.6
p.M246K
c.737T>A
Surrounding Variants
70 papers
NM_000546.6
p.M246R
c.737T>G
63 papers
NM_000546.6
p.M246T
c.737T>C
3 papers
NM_000546.6
p.M246delFs
c.736delT
2 papers
NM_000546.6
p.G245_M246del1
c.734_736delTGC
1 paper
NM_000546.6
p.G244_M246del0
c.731_736del6
1 paper
NM_000546.6
p.G244_M246delFs
c.730_736del7
1 paper
NM_000546.6
p.S241_M246delFs
c.723_736del14
1 paper
NM_000546.6
p.S241_M246del0
c.722_736del15
1 paper
NM_000546.6
p.S240_M246del0
c.719_736del18
2 papers
NM_000546.6
p.N239_M246del0
c.716_736del21
146 papers
NM_000546.6
p.M246I
c.738G>T
1 paper
NM_000546.6
p.M246_N247insFs
c.738_739ins13
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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."