Varaico: Literature-Extracted Genetic Variants

Gene:TP53
Variant:p.L344_L348delFs

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
1 paper
NM_000546.6
p.L344_L348delFs
c.1031_1043del13
Surrounding Variants
17 papers
NM_000546.6
p.L348F
c.1044G>T
5 papers
NM_000546.6
p.L348fs
c.1042_1043fs
17 papers
NM_000546.6
p.L348F
c.1044G>C
3 papers
NM_000546.6
p.L348delFs
c.1043delA
1 paper
NM_000546.6
p.A347_L348delins
c.1041_1044delinsT
9 papers
NM_000546.6
p.L348W
c.1043T>G
20 papers
NM_000546.6
p.L348S
c.1043T>C
8 papers
NM_000546.6
p.L348*
c.1043T>A
96 papers
NM_000546.6
p.E349*
c.1045G>T
4 papers
NM_000546.6
p.E349Q
c.1045G>C
10 papers
NM_000546.6
p.E349K
c.1045G>A
NM_001126115.2
p.E217K
c.649G>A
3 papers
NM_000546.6
p.L348_E349delins
c.1044_1045delinsTT
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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."