Varaico: Literature-Extracted Genetic Variants

Gene:TP73
Variant:p.R269Q

TP73

342 papers

RefSeq Summary

This gene encodes a member of the p53 family of transcription factors involved in cellular responses to stress and development. It maps to a region on chromosome 1p36 that is frequently deleted in neu...

Pfam Domains

P53aa 117–309UCSCP53 DNA-binding domain
P53aa 117–309UCSCP53 DNA-binding domain
P53_tetrameraa 345–385UCSCP53 tetramerisation motif
P53_tetrameraa 345–385UCSCP53 tetramerisation motif
P53_tetrameraa 345–385UCSCP53 tetramerisation motif
P53_tetrameraa 345–385UCSCP53 tetramerisation motif

Gene Aliases

HGNC Name

tumor protein p73

HGNC Alias Symbol

P73

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_005427.4
p.R269Q
c.806G>A
Surrounding Variants
1 paper
NM_005427.4
p.R269L
c.806G>T
1 paper
NM_005427.4
p.P270P
c.810C>T
1 paper
NM_005427.4
p.I273_T276delFs
c.818_827del10
2 papers
NM_005427.4
p.G264W
c.790G>T
1 paper
NM_005427.4
p.G264_R268del5
c.790_803del15
1 paper
NM_005427.4
p.I275T
c.824T>C
NM_001126240.3
p.I226T
c.677T>C
1 paper
NM_005427.4
p.N259D
c.775A>G
1 paper
NM_005427.4
p.N259_L272del14
c.775_815del42
1 paper
NM_005427.4
p.Y254H
c.760T>C
1 paper
NM_005427.4
p.T250S
c.749C>G
1 paper
NM_005427.4
p.T250S
c.748A>T
1 paper
NM_005427.4
p.E248*
c.742G>T
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