SI c.1600_1601delinsGA ;(p.I534D)

Variant ID: 3-164767029-AT-TC

NM_001041.3(SI):c.1600_1601delinsGA;(p.I534D)

This variant was identified in 1 publication

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

Protein aggregation of the p63 transcription factor underlies severe skin fragility in AEC syndrome.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Russo, Claudia C; Osterburg, Christian C; Sirico, Anna A; Antonini, Dario D; Ambrosio, Raffaele R; Würz, Julia Maren JM; Rinnenthal, Jörg J; Ferniani, Marco M; Kehrloesser, Sebastian S; Schäfer, Birgit B; Güntert, Peter P; Sinha, Satrajit S; Dötsch, Volker V; Missero, Caterina C
Publication Date: 2018-01-30

Variant appearance in text: SI: I534D
PubMed Link: 29339502
Variant Present in the following documents:
  • Main text
  • pnas.201713773.pdf
View BVdb publication page