ALPK1 c.3679G>A ;(p.E1227K)

Variant ID: 4-113362213-G-A

NM_025144.3(ALPK1):c.3679G>A;(p.E1227K)

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 genomic landscapes of individual melanocytes from human skin.

Nature
Tang, Jessica J; Fewings, Eleanor E; Chang, Darwin D; Zeng, Hanlin H; Liu, Shanshan S; Jorapur, Aparna A; Belote, Rachel L RL; McNeal, Andrew S AS; Tan, Tuyet M TM; Yeh, Iwei I; Arron, Sarah T ST; Judson-Torres, Robert L RL; Bastian, Boris C BC; Shain, A Hunter AH
Publication Date: 2020-10

Variant appearance in text: ALPK1: E1227K
PubMed Link: 33029006
Variant Present in the following documents:
  • NIHMS1626314-supplement-1626314_SuppTable3.xlsx, sheet 1
View BVdb publication page