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.V822A

c.2465T>C

Surrounding Variants

1 paper

NM_021185.5

p.S810*

c.2429C>A

1 paper

NM_021185.5

p.S778W

c.2333C>G

1 paper

NM_021185.5

p.G776D

c.2327G>A

1 paper

NM_021185.5

p.I770M

c.2310C>G

1 paper

NM_021185.5

p.F768S

c.2303T>C

1 paper

NM_021185.5

p.E753K

c.2257G>A

1 paper

NM_021185.5

p.Y752*

c.2256C>A

1 paper

NM_021185.5

p.Y752*

c.2256C>G

1 paper

NM_021185.5

p.Y746C

c.2237A>G

1 paper

NM_021185.5

p.V735fs

c.2203_2204fs

1 paper

NM_021185.5

p.G733S

c.2197G>A

1 paper

NM_021185.5

p.A732A

c.2196G>A