Varaico: Literature-Extracted Genetic Variants

Gene:PHAF1

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
1–12 of 25 variants
2 papers
NM_025187.5
p.G13R
c.37G>A
2 papers
NM_025187.5
p.G13R
c.37G>C
1 paper
NM_025187.5
p.L21L
c.61C>T
1 paper
NM_025187.5
p.R37C
c.109C>T
1 paper
NM_025187.5
p.Q49_S50Splc
c.148-4G>A
1 paper
NM_025187.5
p.D63N
c.187G>A
1 paper
NM_025187.5
p.E80K
c.238G>A
1 paper
NM_025187.5
p.L84F
c.252G>C
1 paper
NM_025187.5
p.L84F
c.252G>T
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
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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."