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.D163G

c.488A>G

Surrounding Variants

19 papers

NM_004371.4

p.I164V

c.490A>G

1 paper

NM_004371.4

p.G166C

c.496G>T

1 paper

NM_004371.4

p.R160R

c.480C>A

1 paper

NM_004371.4

p.R160H

c.479G>A

3 papers

NM_004371.4

p.R160C

c.478C>T

1 paper

NM_004371.4

p.V159M

c.475G>A

1 paper

NM_004371.4

p.D148Y

c.442G>T

3 papers

NM_004371.4

p.T146A

c.436A>G

5 papers

NM_004371.4

p.P145S

c.433C>T

1 paper

NM_004371.4

p.Q142Q

c.426G>A

1 paper

NM_004371.4

p.N135T

c.404A>C

1 paper

NM_004371.4

p.H134R

c.401A>G