Varaico: Literature-Extracted Genetic Variants

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

130 papers

NM_000546.6

p.R249W

c.745A>T

Surrounding Variants

13 papers

NM_000546.6

p.R249fs

c.745_746fs

155 papers

NM_000546.6

p.R249G

c.745A>G

1 paper

NM_000546.6

p.G245_R248insFs

c.735_744dup10

4 papers

NM_000546.6

p.R248delFs

c.744delC

1 paper

NM_001126118.2

p.R209delFs

c.626_627delCC

1 paper

NM_000546.6

p.R248del1

c.742_743delCCG

1 paper

NM_000546.6

p.G245_R248del4

c.733_743del12

3 papers

NM_000546.6

p.M243_R248del0

c.729_743del15

1 paper

NM_000546.6

p.M243_R248delFs

c.729_744del16

174 papers

NM_000546.6

p.R249M

c.746G>T

1 paper

NM_000546.6

p.R248R

c.744G>T

7 papers

NM_000546.6

p.R248fs

c.742_743fs