Varaico: Literature-Extracted Genetic Variants

EDEM3

83 papers

RefSeq Summary

Quality control in the endoplasmic reticulum (ER) ensures that only properly folded proteins are retained in the cell through recognition and degradation of misfolded or unassembled proteins. EDEM3 be...

Pfam Domains

Glyco_hydro_47aa 59–498UCSCGlycosyl hydrolase family 47

PAaa 680–775UCSCPA domain

Gene Aliases

HGNC Name

ER degradation enhancing alpha-mannosidase like protein 3

HGNC Previous Names

chromosome 1 open reading frame 22; ER degradation enhancer, mannosidase alpha-like 3

Papers

RefSeq ID

Protein change

DNA change

1–12 of 93 variants

5 papers

NM_025191.4

p.I820S

c.2459T>G

4 papers

NM_025191.4

p.P746S

c.2236C>T

3 papers

NM_025191.4

p.R85*

c.253C>T

3 papers

NM_025191.4

p.P192L

c.575C>T

2 papers

NM_025191.4

p.A4V

c.11C>T

2 papers

NM_025191.4

p.P367S

c.1099C>T

2 papers

NM_025191.4

p.F670fs

c.2008_2009fs

2 papers

NM_025191.4

p.D811Y

c.2431G>T

1 paper

NM_025191.4

p.M1I

c.3G>T

1 paper

NM_025191.4

p.M1I

c.3G>C

1 paper

NM_025191.4

p.M1I

c.3G>A

1 paper

NM_025191.4

p.S2C

c.4A>T