AHNAK2 c.9190T>G ;(p.L3064V)

Variant ID: 14-105412598-A-C

NM_138420.2(AHNAK2):c.9190T>G;(p.L3064V)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Systematic review and meta-analysis of genomic alterations in acral melanoma.

Pigment Cell & Melanoma Research
Broit, Natasa N; Johansson, Peter A PA; Rodgers, Chloe B CB; Walpole, Sebastian T ST; Hayward, Nicholas K NK; Pritchard, Antonia L AL
Publication Date: 2022-05

Variant appearance in text: AHNAK2: 9190T>G; L3064V; rs759555268
PubMed Link: 35229492
Variant Present in the following documents:
  • PCMR-35-369-s003.xlsx, sheet 6
View BVdb publication page



Whole-genome sequencing of acral melanoma reveals genomic complexity and diversity.

Nature Communications
Newell, Felicity F; Wilmott, James S JS; Johansson, Peter A PA; Nones, Katia K; Addala, Venkateswar V; Mukhopadhyay, Pamela P; Broit, Natasa N; Amato, Carol M CM; Van Gulick, Robert R; Kazakoff, Stephen H SH; Patch, Ann-Marie AM; Koufariotis, Lambros T LT; Lakis, Vanessa V; Leonard, Conrad C; Wood, Scott S; Holmes, Oliver O; Xu, Qinying Q; Lewis, Karl K; Medina, Theresa T; Gonzalez, Rene R; Saw, Robyn P M RPM; Spillane, Andrew J AJ; Stretch, Jonathan R JR; Rawson, Robert V RV; Ferguson, Peter M PM; Dodds, Tristan J TJ; Thompson, John F JF; Long, Georgina V GV; Levesque, Mitchell P MP; Robinson, William A WA; Pearson, John V JV; Mann, Graham J GJ; Scolyer, Richard A RA; Waddell, Nicola N; Hayward, Nicholas K NK
Publication Date: 2020-10-16

Variant appearance in text: AHNAK2: 9190T>G; Leu3064Val
PubMed Link: 33067454
Variant Present in the following documents:
  • 41467_2020_18988_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page