Varaico: Literature-Extracted Genetic Variants

Gene:ECPAS
Variant:p.V164V

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.V164V
c.492G>T
Surrounding Variants
1 paper
NM_001364929.1
p.F140delFs
c.420delA
1 paper
NM_001364929.1
p.A113fs
c.337_338fs
2 papers
NM_001364929.1
p.S186F
c.557C>T
1 paper
NM_001364929.1
p.G204R
c.610G>C
1 paper
NM_001364929.1
p.G204R
c.610G>A
1 paper
NM_001364929.1
p.A220G
c.659C>G
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