Varaico: Literature-Extracted Genetic Variants

Gene:TP53
Variant:p.M40_D41del1

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.M40_D41del1
c.120_122delTCC
Surrounding Variants
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
41 papers
NM_000546.6
p.D41E
c.123T>A
3 papers
NM_000546.6
p.D41delFs
c.122delT
1 paper
NM_000546.6
p.D41delFs
c.121_122delTC
1 paper
NM_000546.6
p.Q38_D41delFs
c.113_122del10
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
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