CLN5 c.1005A>C ;(p.K335N)

Variant ID: 13-77575032-A-C

NM_006493.2(CLN5):c.1005A>C;(p.K335N)

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:

The somatic POLE P286R mutation defines a unique subclass of colorectal cancer featuring hypermutation, representing a potential genomic biomarker for immunotherapy.

Oncotarget
Ahn, Sung-Min SM; Ansari, Adnan Ahmad AA; Kim, Jihun J; Kim, Deokhoon D; Chun, Sung-Min SM; Kim, Jiyun J; Kim, Tae Won TW; Park, Inja I; Yu, Chang-Sik CS; Jang, Se Jin SJ
Publication Date: 2016-10-18

Variant appearance in text: CLN5: K384N
PubMed Link: 27612425
Variant Present in the following documents:
  • oncotarget-07-68638-s008.xlsx, sheet 1
View BVdb publication page