Varaico: Literature-Extracted Genetic Variants

Gene:ABCF1
Variant:p.D651E

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.D651E
c.1953T>A
Surrounding Variants
1 paper
NM_001025091.2
p.D651E
c.1953T>G
1 paper
NM_001025091.2
p.V657E
c.1970T>A
1 paper
NM_001025091.2
p.K664M
c.1991A>T
1 paper
NM_001025091.2
p.P615Q
c.1844C>A
1 paper
NM_001025091.2
p.T613T
c.1839T>A
1 paper
NM_001025091.2
p.R611C
c.1831C>T
1 paper
NM_001025091.2
p.R604H
c.1811G>A
1 paper
NM_001025091.2
p.L601L
c.1803C>T
1 paper
NM_001025091.2
p.N590S
c.1769A>G
1 paper
NM_001025091.2
p.N590Y
c.1768A>T
1 paper
NM_001025091.2
p.R581Q
c.1742G>A
1 paper
NM_001025091.2
p.M534Splc
c.1600+15G>C
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