Varaico: Literature-Extracted Genetic Variants

Gene:AP5B1
Variant:p.Q11*

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.Q11*
c.31C>T
Surrounding Variants
1 paper
NM_138368.5
p.D7A
c.20A>C
1 paper
NM_138368.5
p.R6R
c.18G>A
1 paper
NM_138368.5
p.E28Fs
c.83delinsTGFs
1 paper
NM_138368.5
p.P27_E28Fs
c.80_83delinsTGCTGTFs
1 paper
NM_138368.5
p.P27_E28Fs
c.80_83delinsTGFs
1 paper
NM_138368.5
p.M58T
c.173T>C
2 papers
NM_138368.5
p.E59Q
c.175G>C
1 paper
NM_138368.5
p.T76A
c.226A>G
1 paper
NM_138368.5
p.L92F
c.274C>T
1 paper
NM_138368.5
p.L97L
c.291G>T
1 paper
NM_138368.5
p.L98L
c.294G>A
1 paper
NM_138368.5
p.L104delFs
c.310delG
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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."