Varaico: Literature-Extracted Genetic Variants

CAP2

56 papers

RefSeq Summary

This gene was identified by its similarity to the gene for human adenylyl cyclase-associated protein. The function of the protein encoded by this gene is unknown. However, the protein appears to be ab...

Pfam Domains

CAP_N-CMaa 5–36UCSCCAP N-terminal conserved motif

CAP_Naa 49–114UCSCCAP, N-terminal domain

CAP_Caa 209–363UCSCAdenylate cyclase associated (CAP) C terminal

Gene Aliases

HGNC Name

cyclase associated actin cytoskeleton regulatory protein 2

HGNC Previous Name

CAP, adenylate cyclase-associated protein, 2 (yeast)

Papers

RefSeq ID

Protein change

DNA change

1–12 of 51 variants

3 papers

NM_006366.3

p.T212_G213Splc

c.636+1G>A

3 papers

NM_006366.3

p.P310T

c.928C>A

3 papers

NM_006366.3

p.Y316C

c.947A>G

2 papers

NM_006366.3

p.S256P

c.766T>C

2 papers

NM_006366.3

p.T311A

c.931A>G

2 papers

NM_006366.3

p.Y316*

c.948T>A

2 papers

NM_006366.3

p.Y316*

c.948T>G

1 paper

NM_006366.3

p.R13Q

c.38G>A

1 paper

NM_006366.3

p.R17H

c.50G>A

1 paper

NM_006366.3

p.S20L

c.59C>T

1 paper

NM_006366.3

p.C32G

c.94T>G

1 paper

NM_006366.3

p.C32Y

c.95G>A