Varaico: Literature-Extracted Genetic Variants

Gene:AP5B1
Variant:p.F697L

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.F697L
c.2091C>A
Surrounding Variants
1 paper
NM_138368.5
p.F697L
c.2091C>G
1 paper
NM_138368.5
p.R698S
c.2092C>A
1 paper
NM_138368.5
p.F697L
c.2089T>C
1 paper
NM_138368.5
p.R696insFs
c.2086dupC
1 paper
NM_138368.5
p.P684L
c.2051C>T
1 paper
NM_138368.5
p.A742A
c.2226C>T
1 paper
NM_138368.5
p.E647K
c.1939G>A
1 paper
NM_138368.5
p.F767fs
c.2299_2300fs
1 paper
NM_138368.5
p.L618insFs
c.1852dupC
1 paper
NM_138368.5
p.L618fs
c.1852_1853fs
1 paper
NM_138368.5
p.R613insFs
c.1839dupC
1 paper
NM_138368.5
p.L785P
c.2354T>C
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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."