Varaico: Literature-Extracted Genetic Variants

Gene:AP5S1
Variant:p.E130Q

AP5S1

16 papers

Pfam Domains

AP-5_subunit_s1aa 1–195UCSCAP-5 complex subunit sigma-1

Gene Aliases

HGNC Name

adaptor related protein complex 5 subunit sigma 1

HGNC Previous Symbol

C20orf29

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_018347.3
p.E130Q
c.388G>C
Surrounding Variants
1 paper
NM_018347.3
p.A128D
c.383C>A
2 papers
NM_018347.3
p.F122S
c.365T>C
1 paper
NM_018347.3
p.S119S
c.357G>A
1 paper
NM_018347.3
p.P155S
c.463C>T
1 paper
NM_018347.3
p.R95H
c.284G>A
1 paper
NM_018347.3
p.F173V
c.517T>G
1 paper
NM_018347.3
p.M77I
c.231G>A
1 paper
NM_018347.3
p.M77I
c.231G>C
1 paper
NM_018347.3
p.M77I
c.231G>T
1 paper
NM_018347.3
p.E44K
c.130G>A
1 paper
NM_018347.3
p.P40T
c.118C>A
1 paper
NM_018347.3
p.R22Q
c.65G>A
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