Varaico: Literature-Extracted Genetic Variants

Gene:PHAF1
Variant:p.L84F

PHAF1

28 papers

Pfam Domains

PHAF1aa 15–407UCSCPhagosome assembly factor 1

Gene Aliases

HGNC Name

phagophore assembly factor 1

HGNC Previous Symbols

C16orf6; LIN10; C16orf70

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_025187.5
p.L84F
c.252G>C
Surrounding Variants
1 paper
NM_025187.5
p.L84F
c.252G>T
1 paper
NM_025187.5
p.E80K
c.238G>A
1 paper
NM_025187.5
p.E106*
c.316G>T
1 paper
NM_025187.5
p.G113A
c.338G>C
1 paper
NM_025187.5
p.G113G
c.339C>T
1 paper
NM_025187.5
p.G118E
c.353G>A
1 paper
NM_025187.5
p.V119Splc
c.356-7C>A
1 paper
NM_025187.5
p.A123T
c.367G>A
1 paper
NM_025187.5
p.S142*
c.425C>A
1 paper
NM_025187.5
p.S142*
c.425C>G
1 paper
NM_025187.5
p.D63N
c.187G>A
1 paper
NM_025187.5
p.Q49_S50Splc
c.148-4G>A
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