PRNP c.748_750delinsTAT ;(p.L250Y)

Variant ID: 20-4680614-CTG-TAT

NM_000311.3(PRNP):c.748_750delinsTAT;(p.L250Y)

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:

Pro-prion binds filamin A, facilitating its interaction with integrin beta1, and contributes to melanomagenesis.

The Journal Of Biological Chemistry
Li, Chaoyang C; Yu, Shuiliang S; Nakamura, Fumihiko F; Pentikäinen, Olli T OT; Singh, Neena N; Yin, Shaoman S; Xin, Wei W; Sy, Man-Sun MS
Publication Date: 2010-09-24

Variant appearance in text: PRNP: L250Y
PubMed Link: 20650901
Variant Present in the following documents:
  • Main text
View BVdb publication page