Varaico: Literature-Extracted Genetic Variants

Gene:ECPAS
Variant:p.A601A

ECPAS

47 papers

Pfam Domains

ECM29_Naa 10–516UCSCProteasome component ECM29, N-terminal
ARM_ECM29aa 600–814UCSCECM29, ARM-like repeats
Vac14_Fab1_bdaa 1134–1227UCSCVacuolar 14 Fab1-binding region
HEAT_ECM29aa 1283–1442UCSCProteasome adapter and scaffold protein ECM29, HEAT-repeat domain
ARM_ECM29_Caa 1598–1826UCSCECM29, C-terminal ARM-like repeats

Gene Aliases

HGNC Name

Ecm29 proteasome adaptor and scaffold

HGNC Previous Symbol

KIAA0368

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001364929.1
p.A601A
c.1803G>A
Surrounding Variants
1 paper
NM_001364929.1
p.T644S
c.1930A>T
1 paper
NM_001364929.1
p.T644S
c.1931C>G
1 paper
NM_001364929.1
p.M554V
c.1660A>G
1 paper
NM_001364929.1
p.P740L
c.2219C>T
1 paper
NM_001364929.1
p.S746F
c.2237C>T
1 paper
NM_001364929.1
p.L784F
c.2350C>T
1 paper
NM_001364929.1
p.L514del1
c.1540_1541delTAG
1 paper
NM_001364929.1
p.A470T
c.1408G>A
1 paper
NM_001364929.1
p.I432M
c.1296A>G
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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."