Varaico: Literature-Extracted Genetic Variants

C2CD5

12p12.1 (UCSC)OMIM GTEx

46 papers

Pfam Domains

C2aa 3–111UCSCC2 domain

YbjQ_2aa 138–250UCSCC2 domain-containing protein 5, YbjQ-like domain

YbjQ_2aa 342–438UCSCC2 domain-containing protein 5, YbjQ-like domain

YbjQ_2aa 488–592UCSCC2 domain-containing protein 5, YbjQ-like domain

YbjQ_3aa 701–795UCSCC2 domain-containing protein 5, fifth YbjQ-like domain

YbjQ_2aa 869–975UCSCC2 domain-containing protein 5, YbjQ-like domain

Gene Aliases

HGNC Name

C2 calcium dependent domain containing 5

HGNC Previous Symbol

KIAA0528

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001286176.2

p.E100*

c.298G>T

Surrounding Variants

1 paper

NM_001286176.2

p.R119C

c.355C>T

1 paper

NM_001286176.2

p.D129Y

c.385G>T

1 paper

NM_001286176.2

p.T149Splc

c.445+94A>G

3 papers

NM_001286176.2

p.R181Q

c.542G>A

1 paper

NM_001286176.2

p.L209F

c.627G>T

1 paper

NM_001286176.2

p.L209F

c.627G>C

1 paper

NM_001286176.2

p.G216R

c.646G>C

1 paper

NM_001286176.2

p.G216R

c.646G>A

1 paper

NM_001286176.2

p.V220A

c.659T>C

1 paper

NM_001286176.2

p.L223insFs

c.669dupA

1 paper

NM_001286176.2

p.Q224fs

c.670_671fs

1 paper

NM_001286176.2

p.D227N

c.679G>A