Varaico: Literature-Extracted Genetic Variants

Gene:AP5M1
Variant:p.C271F

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.C271F
c.812G>T
Surrounding Variants
1 paper
NM_018229.4
p.H269Y
c.805C>T
1 paper
NM_018229.4
p.L267I
c.799C>A
1 paper
NM_018229.4
p.L280insFs
c.839dupT
1 paper
NM_018229.4
p.P257T
c.769C>A
1 paper
NM_018229.4
p.D286_D289delFs
c.857_866del10
2 papers
NM_018229.4
p.D289N
c.865G>A
1 paper
NM_018229.4
p.N249T
c.746A>C
1 paper
NM_018229.4
p.M247K
c.740T>A
1 paper
NM_018229.4
p.P296T
c.886C>A
1 paper
NM_018229.4
p.Y297*
c.891C>A
1 paper
NM_018229.4
p.Y297*
c.891C>G
1 paper
NM_018229.4
p.K240_C241Splc
c.721-2A>C
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