Varaico: Literature-Extracted Genetic Variants

Gene:AP5M1
Variant:p.S117P

AP5M1

43 papers

Pfam Domains

Adap_comp_subaa 196–475UCSCAdaptor complexes medium subunit family

Gene Aliases

HGNC Name

adaptor related protein complex 5 subunit mu 1

HGNC Previous Symbols

C14orf108; MUDENG

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_018229.4
p.S117P
c.349T>C
Surrounding Variants
1 paper
NM_018229.4
p.R119H
c.356G>A
1 paper
NM_018229.4
p.D103N
c.307G>A
1 paper
NM_018229.4
p.D140N
c.418G>A
1 paper
NM_018229.4
p.G145D
c.434G>A
1 paper
NM_018229.4
p.G85E
c.254G>A
1 paper
NM_018229.4
p.E151Q
c.451G>C
1 paper
NM_018229.4
p.T81R
c.242C>G
1 paper
NM_018229.4
p.V69A
c.206T>C
1 paper
NM_018229.4
p.L181S
c.542T>C
1 paper
NM_018229.4
p.R33*
c.97C>T
1 paper
NM_018229.4
p.P28Fs
c.83delinsTGFs
1 paper
NM_018229.4
p.Y27_P28Fs
c.80_83delinsTGFs
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