Varaico: Literature-Extracted Genetic Variants

Gene:ABCF1
Variant:p.M474L

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.M474L
c.1420A>C
Surrounding Variants
1 paper
NM_001025091.2
p.M474L
c.1420A>T
1 paper
NM_001025091.2
p.D476N
c.1426G>A
1 paper
NM_001025091.2
p.E477D
c.1431G>C
1 paper
NM_001025091.2
p.E477D
c.1431G>T
1 paper
NM_001025091.2
p.D483E
c.1449C>G
1 paper
NM_001025091.2
p.L490F
c.1468C>T
1 paper
NM_001025091.2
p.R498W
c.1492C>T
1 paper
NM_001025091.2
p.I503I
c.1509C>T
1 paper
NM_001025091.2
p.V504I
c.1510G>A
1 paper
NM_001025091.2
p.V514I
c.1540G>A
1 paper
NM_001025091.2
p.D522N
c.1564G>A
1 paper
NM_001025091.2
p.M534Splc
c.1600+15G>C
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