Varaico: Literature-Extracted Genetic Variants

Gene:TP53
Variant:p.Q16H

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
9 papers
NM_000546.6
p.Q16H
c.48G>T
Surrounding Variants
1 paper
NM_000546.6
p.Q16_E17ins4
c.48_49ins12
5 papers
NM_000546.6
p.Q16fs
c.46_47fs
1 paper
NM_000546.6
p.Q16insFs
c.47dupA
8 papers
NM_000546.6
p.Q16H
c.48G>C
4 papers
NM_000546.6
p.Q16Q
c.48G>A
1 paper
NM_000546.6
p.Q16delFs
c.47delT
1 paper
NM_000546.6
p.Q16delFs
c.46_47delTG
1 paper
NM_000546.6
p.E17*
c.49G>T
7 papers
NM_000546.6
p.E17Q
c.49G>C
49 papers
NM_000546.6
p.E17K
c.49G>A
4 papers
NM_000546.6
p.S15_Q16delFs
c.43_46del4
1 paper
NM_000546.6
p.L14_Q16del3
c.40_47del9
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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."