Varaico: Literature-Extracted Genetic Variants

Gene:AP5B1
Variant:p.R155*

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.R155*
c.463C>T
Surrounding Variants
1 paper
NM_138368.5
p.E152D
c.456G>T
1 paper
NM_138368.5
p.E152D
c.456G>C
4 papers
NM_138368.5
p.G170V
c.509G>T
1 paper
NM_138368.5
p.G130C
c.388G>T
1 paper
NM_138368.5
p.S186_L187insFs
c.558_559insAC
1 paper
NM_138368.5
p.L187insFs
c.559_560ins4
1 paper
NM_138368.5
p.L187fs
c.559_560fs
1 paper
NM_138368.5
p.A109S
c.325G>T
1 paper
NM_138368.5
p.L104delFs
c.310delG
1 paper
NM_138368.5
p.L210fs
c.628_629fs
10 papers
NM_138368.5
p.L211F
c.631C>T
1 paper
NM_138368.5
p.L98L
c.294G>A
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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."