Varaico: Literature-Extracted Genetic Variants

Gene:ABCF1

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
1–12 of 75 variants
4 papers
NM_001025091.2
p.P9L
c.26C>T
3 papers
NM_001025091.2
p.K76delFs
c.227delA
2 papers
NM_001025091.2
p.N198D
c.592A>G
2 papers
NM_001025091.2
p.*846insFs
c.2538dupA
1 paper
NM_001025091.2
p.E11Q
c.31G>C
1 paper
NM_001025091.2
p.S20N
c.59G>A
1 paper
NM_001025091.2
p.G31W
c.91G>T
1 paper
NM_001025091.2
p.Q70_Q72del0
c.210_215del6
1 paper
NM_001025091.2
p.K76fs
c.226_227fs
1 paper
NM_001025091.2
p.R77fs
c.229_230fs
1 paper
NM_001025091.2
p.K103del1
c.307_309delAAG
1 paper
NM_001025091.2
p.S105L
c.314C>T
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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."