Varaico: Literature-Extracted Genetic Variants

Gene:AP5B1
Variant:p.R268Q

AP5B1

64 papers

Pfam Domains

AP5B1_Naa 34–104UCSCAP-5 complex subunit beta-1, N-terminal
AP5B1_middleaa 263–627UCSCAP5B1, middle domain
AP5B1_barrelaa 689–759UCSCAP-5 complex subunit beta-1, beta-barrel
AP5B1_Caa 780–874UCSCAP5B1, C-terminal

Gene Aliases

HGNC Name

adaptor related protein complex 5 subunit beta 1

HGNC Alias Symbols

PP1030; AP-5; DKFZp761E198

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_138368.5
p.R268Q
c.803G>A
Surrounding Variants
1 paper
NM_138368.5
p.S278F
c.833C>T
1 paper
NM_138368.5
p.L280insFs
c.839dupT
1 paper
NM_138368.5
p.G250E
c.749G>A
1 paper
NM_138368.5
p.Q288fs
c.862_863fs
1 paper
NM_138368.5
p.Q288delFs
c.862delG
1 paper
NM_138368.5
p.Q286_L289delFs
c.857_866del10
1 paper
NM_138368.5
p.S241T
c.722G>C
1 paper
NM_138368.5
p.Q311*
c.931C>T
1 paper
NM_138368.5
p.G317insFs
c.950dupG
10 papers
NM_138368.5
p.L211F
c.631C>T
1 paper
NM_138368.5
p.L210fs
c.628_629fs
1 paper
NM_138368.5
p.L187fs
c.559_560fs
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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."