Varaico: Literature-Extracted Genetic Variants

Gene:TP53
Variant:p.D42H

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
7 papers
NM_000546.6
p.D42H
c.124G>C
Surrounding Variants
6 papers
NM_000546.6
p.D42fs
c.124_125fs
14 papers
NM_000546.6
p.D42Y
c.124G>T
1 paper
NM_000546.6
p.D41insFs
c.123dupT
1 paper
NM_000546.6
p.A39_D41insFs
c.116_123dup8
1 paper
NM_000546.6
p.D42_L43ins13
c.124_128ins39
21 papers
NM_000546.6
p.D42N
c.124G>A
1 paper
NM_000546.6
p.D41delFs
c.123delA
1 paper
NM_000546.6
p.P36_D41del6
c.106_122del18
6 papers
NM_000546.6
p.D41fs
c.121_122fs
1 paper
NM_000546.6
p.D41insFs
c.122dupA
10 papers
NM_000546.6
p.D41E
c.123T>G
2 papers
NM_000546.6
p.D41D
c.123T>C
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