Varaico: Literature-Extracted Genetic Variants

CATSPERG

64 papers

RefSeq Summary

CATSPERG is a subunit of the CATSPER (see CATSPER1; MIM 606389) sperm calcium channel, which is required for sperm hyperactivated motility and male fertility (Wang et al., 2009 [PubMed 19516020]).[sup...

Pfam Domains

CATSPERG_NTDaa 44–203UCSCCATSPERG N-terminal domain

CATSPERG_beta-propaa 207–649UCSCCATSPERG beta-propeller domain

CATSPERG_beta-propaa 398–609UCSCCATSPERG beta-propeller domain

CATSPERG_Ig-likeaa 753–879UCSCCATSPERG Ig-like domain

CATSPERG_Caa 905–1106UCSCCATSPERG C-terminal domain

Gene Aliases

HGNC Name

catsper channel auxiliary subunit gamma

HGNC Previous Symbol

C19orf15

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_021185.5

p.R212Q

c.635G>A

Surrounding Variants

1 paper

NM_021185.5

p.V180A

c.539T>C

1 paper

NM_021185.5

p.Q143*

c.427C>T

1 paper

NM_021185.5

p.R138L

c.413G>T

1 paper

NM_021185.5

p.Q230L

c.689A>T

1 paper

NM_021185.5

p.W241delFs

c.721_722delTG

1 paper

NM_021185.5

p.V274M

c.820G>A

1 paper

NM_021185.5

p.P85S

c.253C>T

1 paper

NM_021185.5

p.R55M

c.164G>T

4 papers

NM_021185.5

p.L29P

c.86T>C

1 paper

NM_021185.5

p.S285F

c.854C>T

1 paper

NM_021185.5

p.T306N

c.917C>A

1 paper

NM_021185.5

p.L325V

c.973C>G