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

1 paper

NM_004371.4

p.T185I

c.554C>T

Surrounding Variants

2 papers

NM_004371.4

p.D188N

c.562G>A

4 papers

NM_004371.4

p.H199R

c.596A>G

1 paper

NM_004371.4

p.G166D

c.497G>A

1 paper

NM_004371.4

p.G203A

c.608G>C

2 papers

NM_004371.4

p.G207E

c.620G>A

1 paper

NM_004371.4

p.D225Y

c.673G>T

1 paper

NM_004371.4

p.R227C

c.679C>T

22 papers

NM_004371.4

p.K230N

c.690G>T

22 papers

NM_004371.4

p.K230N

c.690G>C

25 papers

NM_004371.4

p.R233H

c.698G>A

1 paper

NM_004371.4

p.G166C

c.496G>T

19 papers

NM_004371.4

p.I164V

c.490A>G