Varaico: Literature-Extracted Genetic Variants

CAP1

94 papers

RefSeq Summary

The protein encoded by this gene is related to the S. cerevisiae CAP protein, which is involved in the cyclic AMP pathway. The human protein is able to interact with other molecules of the same protei...

Pfam Domains

CAP_N-CMaa 5–43UCSCCAP N-terminal conserved motif

CAP_Naa 47–205UCSCCAP, N-terminal domain

CAP_Caa 318–473UCSCAdenylate cyclase associated (CAP) C terminal

Gene Aliases

HGNC Name

cyclase associated actin cytoskeleton regulatory protein 1

HGNC Previous Names

CAP, adenylate cyclase-associated protein 1 (yeast); adenylate cyclase associated protein 1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

9 papers

NM_006367.4

p.C247G

c.739T>G

Surrounding Variants

3 papers

NM_006367.4

p.S246A

c.736T>G

3 papers

NM_006367.4

p.S248A

c.742T>G

9 papers

NM_006367.4

p.I245S

c.734T>G

9 papers

NM_006367.4

p.Y249D

c.745T>G

1 paper

NM_006367.4

p.P241del1

c.721_722delCCA

3 papers

NM_006367.4

p.S255A

c.763T>G

12 papers

NM_006367.4

p.S256A

c.766T>G

1 paper

NM_006367.4

p.P239_P240del1

c.717_719delTCC

10 papers

NM_006367.4

p.C236G

c.706T>G

2 papers

NM_006367.4

p.A259V

c.776C>T

1 paper

NM_006367.4

p.A259A

c.777G>A

1 paper

NM_006367.4

p.Q263*

c.787C>T