GC c.313_314delinsTT ;(p.H105F)

Variant ID: 4-72631308-TG-AA

NM_000583.3(GC):c.313_314delinsTT;(p.H105F)

This variant was identified in 2 publications

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

Heme sensor proteins.

The Journal Of Biological Chemistry
Girvan, Hazel M HM; Munro, Andrew W AW
Publication Date: 2013-05-10

Variant appearance in text: GC: H105F
PubMed Link: 23539616
Variant Present in the following documents:
  • Main text
View BVdb publication page


Soluble guanylyl cyclase requires heat shock protein 90 for heme insertion during maturation of the NO-active enzyme.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Ghosh, Arnab A; Stuehr, Dennis J DJ
Publication Date: 2012-08-07

Variant appearance in text: GC: H105F
PubMed Link: 22837396
Variant Present in the following documents:
  • Main text
View BVdb publication page