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.R64C

c.190C>T

Surrounding Variants

1 paper

NM_020939.2

p.R64H

c.191G>A

1 paper

NM_020939.2

p.D69N

c.205G>A

1 paper

NM_020939.2

p.I81V

c.241A>G

1 paper

NM_020939.2

p.E88D

c.264G>T

1 paper

NM_020939.2

p.E88D

c.264G>C

1 paper

NM_020939.2

p.L96V

c.286C>G

1 paper

NM_020939.2

p.T135Splc

c.404+1G>A