HP c.701A>C ;(p.E234A)

Variant ID: 16-72094269-A-C

NM_005143.3(HP):c.701A>C;(p.E234A)

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:

Partial randomization of the four sequential amidation reactions catalyzed by cobyric acid synthetase with a single point mutation.

Biochemistry
Fresquet, Vicente V; Williams, LaKenya L; Raushel, Frank M FM
Publication Date: 2007-12-11

Variant appearance in text: HP: E234A
PubMed Link: 18001139
Variant Present in the following documents:
  • Main text
View BVdb publication page