Varaico: Literature-Extracted Genetic Variants

Gene:TP53
Variant:p.L130insFs

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.L130insFs
c.388_389insG
Surrounding Variants
108 papers
NM_000546.6
p.L130F
c.388C>T
133 papers
NM_000546.6
p.L130V
c.388C>G
1 paper
NM_000546.6
p.P128_A129insFs
c.384_387dup4
1 paper
NM_000546.6
p.L130insFs
c.388_389insA
19 papers
NM_000546.6
p.L130I
c.388C>A
11 papers
NM_000546.6
p.L130fs
c.388_389fs
4 papers
NM_000546.6
p.A129del1
c.385_387delGGC
1 paper
NM_000546.6
p.P128_A129delFs
c.384_387del4
1 paper
NM_000546.6
p.L130insFs
c.389_390insG
4 papers
NM_000546.6
p.L130insFs
c.388dupC
1 paper
NM_000546.6
p.A129_L130insFs
c.387_388dupCC
1 paper
NM_000546.6
p.L130insFs
c.389_390insA
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