Varaico: Literature-Extracted Genetic Variants

Gene:AP5B1
Variant:p.R415H

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.R415H
c.1244G>A
Surrounding Variants
1 paper
NM_138368.5
p.A411T
c.1231G>A
1 paper
NM_138368.5
p.L401F
c.1201C>T
1 paper
NM_138368.5
p.P437S
c.1309C>T
1 paper
NM_138368.5
p.L369L
c.1107T>G
1 paper
NM_138368.5
p.P362L
c.1085C>T
1 paper
NM_138368.5
p.C474_L483del0
c.1421_1447del27
1 paper
NM_138368.5
p.G317insFs
c.950dupG
1 paper
NM_138368.5
p.Q311*
c.931C>T
1 paper
NM_138368.5
p.V522V
c.1566G>A
1 paper
NM_138368.5
p.P531L
c.1592C>T
1 paper
NM_138368.5
p.G532V
c.1595G>T
1 paper
NM_138368.5
p.Q286_L289delFs
c.857_866del10
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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."