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.C882Y

c.2645G>A

Surrounding Variants

1 paper

NM_021185.5

p.G885S

c.2653G>A

1 paper

NM_021185.5

p.P877S

c.2629C>T

1 paper

NM_021185.5

p.T893I

c.2678C>T

1 paper

NM_021185.5

p.E897K

c.2689G>A

1 paper

NM_021185.5

p.V910I

c.2728G>A

1 paper

NM_021185.5

p.N913S

c.2738A>G

1 paper

NM_021185.5

p.I924Splc

c.2770+1G>C

1 paper

NM_021185.5

p.G944D

c.2831G>A

2 papers

NM_021185.5

p.Q862*

c.2584C>T

3 papers

NM_021185.5

p.V853M

c.2557G>A

1 paper

NM_021185.5

p.Q837L

c.2510A>T

1 paper

NM_021185.5

p.Y835F

c.2504A>T