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.E269V

c.806A>T

Surrounding Variants

1 paper

NM_004371.4

p.S268F

c.803C>T

1 paper

NM_004371.4

p.R260C

c.778C>T

8 papers

NM_004371.4

p.R281W

c.841C>T

1 paper

NM_004371.4

p.V256L

c.766G>C

1 paper

NM_004371.4

p.V256I

c.766G>A

1 paper

NM_004371.4

p.N251K

c.753T>G

1 paper

NM_004371.4

p.N251K

c.753T>A

20 papers

NM_004371.4

p.D243G

c.728A>G

7 papers

NM_004371.4

p.D243N

c.727G>A

8 papers

NM_004371.4

p.V242G

c.725T>G

3 papers

NM_004371.4

p.V242A

c.725T>C

1 paper

NM_004371.4

p.E241D

c.723G>T