Varaico: Literature-Extracted Genetic Variants

Gene:ABCF1
Variant:p.R844fs

ABCF1

78 papers

RefSeq Summary

The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC gen...

Pfam Domains

ABC_tranaa 319–480UCSCABC transporter
ABC_tranaa 641–771UCSCABC transporter

Gene Aliases

HGNC Name

ATP binding cassette subfamily F member 1

HGNC Previous Symbol

ABC50

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001025091.2
p.R844fs
c.2530_2531fs
Surrounding Variants
1 paper
NM_001025091.2
p.R844delFs
c.2530delC
2 papers
NM_001025091.2
p.*846insFs
c.2538dupA
1 paper
NM_001025091.2
p.A834D
c.2501C>A
1 paper
NM_001025091.2
p.R829W
c.2485C>T
1 paper
NM_001025091.2
p.S818R
c.2454C>A
1 paper
NM_001025091.2
p.S818R
c.2454C>G
1 paper
NM_001025091.2
p.S818R
c.2452A>C
1 paper
NM_001025091.2
p.Q808insFs
c.2423_2424insA
1 paper
NM_001025091.2
p.N806S
c.2417A>G
1 paper
NM_001025091.2
p.P677_T678Splc
c.2032-64A>G
1 paper
NM_001025091.2
p.K664M
c.1991A>T
1 paper
NM_001025091.2
p.V657E
c.1970T>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."