CD300C c.377A>C ;(p.E126A)

Variant ID: 17-72540771-T-G

NM_006678.4(CD300C):c.377A>C;(p.E126A)

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:

Structure-based development of a receptor activator of nuclear factor-kappaB ligand (RANKL) inhibitor peptide and molecular basis for osteopetrosis.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Ta, Hai Minh HM; Nguyen, Giang Thi Tuyet GT; Jin, Hye Mi HM; Choi, Jongkeun J; Park, Hyejin H; Kim, Nacksung N; Hwang, Hye-Yeon HY; Kim, Kyeong Kyu KK
Publication Date: 2010-11-23

Variant appearance in text: LIR: E126A
PubMed Link: 21059944
Variant Present in the following documents:
  • Main text
View BVdb publication page