Varaico: Literature-Extracted Genetic Variants

Gene:TP53
Variant:p.R379S

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
12 papers
NM_000546.6
p.R379S
c.1135C>A
Surrounding Variants
19 papers
NM_000546.6
p.R379C
c.1135C>T
NM_001126115.2
p.R247C
c.739C>T
1 paper
NM_000546.6
p.R379G
c.1135C>G
1 paper
NM_000546.6
p.R379_H380insG
c.1135_1139ins3
7 papers
NM_000546.6
p.R379insFs
c.1135_1136insA
3 papers
NM_000546.6
p.R379fs
c.1135_1136fs
1 paper
NM_000546.6
p.S378del1
c.1132_1133delGGA
2 papers
NM_000546.6
p.T377_S378del2
c.1129_1133del6
11 papers
NM_000546.6
p.R379L
c.1136G>T
1 paper
NM_001126115.2
p.R247P
c.740G>C
25 papers
NM_000546.6
p.R379H
c.1136G>A
NM_001126115.2
p.R247H
c.740G>A
1 paper
NM_000546.6
p.S378delFs
c.1133delG
2 papers
NM_000546.6
p.S378S
c.1134C>T
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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."