NF1 c.5163T>A ;(p.H1721Q)

Variant ID: 17-29653165-T-A

NM_001042492.2(NF1):c.5163T>A;(p.H1721Q)

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:

CAPN1 is a novel binding partner and regulator of the tumor suppressor NF1 in melanoma.

Oncotarget
Alon, Michal M; Arafeh, Rand R; Lee, Joo Sang JS; Madan, Sanna S; Kalaora, Shelly S; Nagler, Adi A; Abgarian, Tereza T; Greenberg, Polina P; Ruppin, Eytan E; Samuels, Yardena Y
Publication Date: 2018-07-27

Variant appearance in text: NF1: H1721Q
PubMed Link: 30131853
Variant Present in the following documents:
  • Main text
  • oncotarget-09-31264.pdf
View BVdb publication page