Varaico: Literature-Extracted Genetic Variants

Gene:ABCF1
Variant:p.Q170*

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.Q170*
c.508C>T
Surrounding Variants
1 paper
NM_001025091.2
p.A164V
c.491C>T
1 paper
NM_001025091.2
p.K176N
c.528A>T
2 papers
NM_001025091.2
p.N198D
c.592A>G
1 paper
NM_001025091.2
p.E210_K215del6
c.628_644del18
1 paper
NM_001025091.2
p.R160Q
c.479G>A
1 paper
NM_001025091.2
p.E147del1
c.439_440delGAA
1 paper
NM_001025091.2
p.E144D
c.432G>C
1 paper
NM_001025091.2
p.E144D
c.432G>T
1 paper
NM_001025091.2
p.E143del1
c.427_429delGAG
1 paper
NM_001025091.2
p.A133V
c.398C>T
1 paper
NM_001025091.2
p.G128C
c.382G>T
1 paper
NM_001025091.2
p.G123G
c.369G>A
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