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.V399Splc

c.1196-2A>T

Surrounding Variants

1 paper

NM_021185.5

p.T415T

c.1245T>C

1 paper

NM_021185.5

p.E421V

c.1262A>T

2 papers

NM_021185.5

p.Q390*

c.1168C>T

1 paper

NM_021185.5

p.D379Splc

c.1136-2A>T

1 paper

NM_021185.5

p.R457P

c.1370G>C

1 paper

NM_021185.5

p.Y485H

c.1453T>C

1 paper

NM_021185.5

p.M361L

c.1081A>C

1 paper

NM_021185.5

p.M361L

c.1081A>T

1 paper

NM_021185.5

p.G333Splc

c.998-19C>T

1 paper

NM_021185.5

p.I517F

c.1549A>T

1 paper

NM_021185.5

p.I517M

c.1551C>G

1 paper

NM_021185.5

p.N574S

c.1721A>G