Varaico: Literature-Extracted Genetic Variants

CABYR

33 papers

RefSeq Summary

To reach fertilization competence, spermatozoa undergo a series of morphological and molecular maturational processes, termed capacitation, involving protein tyrosine phosphorylation and increased int...

Pfam Domains

RIIaaa 12–49UCSCRegulatory subunit of type II PKA R-subunit

Gene Aliases

HGNC Name

calcium binding tyrosine phosphorylation regulated

HGNC Alias Symbols

FSP-2; CBP86; CT88

Papers

RefSeq ID

Protein change

DNA change

1–12 of 34 variants

2 papers

NM_153769.3

p.A39G

c.116C>G

1 paper

NM_153769.3

p.I2M

c.6T>G

1 paper

NM_153769.3

p.E19Q

c.55G>C

1 paper

NM_153769.3

p.T74M

c.221C>T

1 paper

NM_153769.3

p.V95V

c.285A>G

1 paper

NM_153769.3

p.S102T

c.304T>A

1 paper

NM_153769.3

p.T111N

c.332C>A

1 paper

NM_153769.3

p.R112_T113insFs

c.336_337insT

1 paper

NM_153769.3

p.A127insFs

c.379_380insT

1 paper

NM_153769.3

p.T146A

c.436A>G

1 paper

NM_153769.3

p.T151A

c.451A>G

1 paper

NM_153769.3

p.P152fs

c.454_455fs