Varaico: Literature-Extracted Genetic Variants

CPNE5

43 papers

RefSeq Summary

Calcium-dependent membrane-binding proteins may regulate molecular events at the interface of the cell membrane and cytoplasm. This gene is one of several genes that encode a calcium-dependent protein...

Pfam Domains

C2aa 24–134UCSCC2 domain

C2aa 178–286UCSCC2 domain

C2aa 195–303UCSCC2 domain

Copineaa 364–583UCSCCopine

Gene Aliases

HGNC Name

copine 5

HGNC Alias Symbols

CPN5; COPN5; KIAA1599

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_020939.2

p.H216Y

c.646C>T

Surrounding Variants

2 papers

NM_020939.2

p.P235A

c.703C>G

1 paper

NM_020939.2

p.V236M

c.706G>A

1 paper

NM_020939.2

p.N241N

c.723C>T

1 paper

NM_020939.2

p.G242G

c.726C>T

1 paper

NM_020939.2

p.Y244D

c.730T>G

1 paper

NM_020939.2

p.D192N

c.574G>A

1 paper

NM_020939.2

p.E251K

c.751G>A

1 paper

NM_020939.2

p.G259C

c.775G>T