ABCB4 c.3598G>C ;(p.E1200Q)

Variant ID: 7-87032486-C-G

NM_000443.3(ABCB4):c.3598G>C;(p.E1200Q)

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:

Structures of ABCB4 provide insight into phosphatidylcholine translocation.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Nosol, Kamil K; Bang-Sørensen, Rose R; Irobalieva, Rossitza N RN; Erramilli, Satchal K SK; Stieger, Bruno B; Kossiakoff, Anthony A AA; Locher, Kaspar P KP
Publication Date: 2021-08-17

Variant appearance in text: ABCB4: E1200Q
PubMed Link: 34385322
Variant Present in the following documents:
  • Main text
View BVdb publication page