RUNX2 c.392G>C ;(p.R131P)

Variant ID: 6-45390663-G-C

NM_001024630.3(RUNX2):c.392G>C;(p.R131P)

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:

A mathematical model for the dependence of keratin aggregate formation on the quantity of mutant keratin expressed in EGFP-K14 R125P keratinocytes.

Plos One
Gouveia, Marcos M; Sorčan, Tjaša T; Zemljič-Jokhadar, Špela Š; Travasso, Rui D M RDM; Liović, Mirjana M
Publication Date: 2021

Variant appearance in text: CCD: R131P
PubMed Link: 34962936
Variant Present in the following documents:
  • Main text
  • pone.0261227.pdf
View BVdb publication page


A mathematical model for the dependence of keratin aggregate formation on the quantity of mutant keratin expressed in EGFP-K14 R125P keratinocytes.

Plos One
Gouveia, Marcos M; Sorčan, Tjaša T; Zemljič-Jokhadar, Špela Š; Travasso, Rui D M RDM; Liović, Mirjana M
Publication Date: 2021

Variant appearance in text: CCD: R131P
PubMed Link: 34962936
Variant Present in the following documents:
  • Main text
  • pone.0261227.pdf
View BVdb publication page