Varaico: Literature-Extracted Genetic Variants

COPA

235 papers

RefSeq Summary

In eukaryotic cells, protein transport between the endoplasmic reticulum and Golgi compartments is mediated in part by non-clathrin-coated vesicular coat proteins (COPs). Seven coat proteins have been...

Pfam Domains

WD40aa 1–37UCSCWD domain, G-beta repeat

WD40aa 41–79UCSCWD domain, G-beta repeat

WD40aa 83–121UCSCWD domain, G-beta repeat

WD40aa 125–163UCSCWD domain, G-beta repeat

WD40aa 195–233UCSCWD domain, G-beta repeat

WD40aa 240–277UCSCWD domain, G-beta repeat

Gene Aliases

HGNC Name

coat protein complex I subunit alpha

HGNC Alias Symbols

HEP-COP; alpha-COP

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

10 papers

NM_004371.4

p.R281W

c.841C>T

Surrounding Variants

2 papers

NM_004371.4

p.R281Q

c.842G>A

5 papers

NM_004371.4

p.Q285H

c.855G>T

5 papers

NM_004371.4

p.Q285H

c.855G>C

1 paper

NM_004371.4

p.V296D

c.887T>A

1 paper

NM_004371.4

p.P301L

c.902C>T

1 paper

NM_004371.4

p.L305V

c.913C>G

1 paper

NM_004371.4

p.L305L

c.915C>A

8 papers

NM_004371.4

p.R281W

c.841C>T

1 paper

NM_004371.4

p.E269V

c.806A>T

1 paper

NM_004371.4

p.S268F

c.803C>T

1 paper

NM_004371.4

p.R260C

c.778C>T

1 paper

NM_004371.4

p.V256L

c.766G>C