Varaico: Literature-Extracted Genetic Variants

Gene:ABCF1
Variant:p.V320I

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.V320I
c.958G>A
Surrounding Variants
1 paper
NM_001025091.2
p.G333R
c.997G>A
1 paper
NM_001025091.2
p.G333R
c.997G>C
1 paper
NM_001025091.2
p.E307_F309del3
c.919_926del9
1 paper
NM_001025091.2
p.G333G
c.999G>T
1 paper
NM_001025091.2
p.N351S
c.1052A>G
1 paper
NM_001025091.2
p.L364R
c.1091T>G
1 paper
NM_001025091.2
p.S293P
c.877T>C
1 paper
NM_001025091.2
p.V380G
c.1139T>G
1 paper
NM_001025091.2
p.E410K
c.1228G>A
1 paper
NM_001025091.2
p.A425T
c.1273G>A
1 paper
NM_001025091.2
p.A427_A429del3
c.1279_1286del9
1 paper
NM_001025091.2
p.T449I
c.1346C>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."