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.Q683E

c.2047C>G

Surrounding Variants

1 paper

NM_021185.5

p.Y682Y

c.2046C>T

1 paper

NM_021185.5

p.Y682C

c.2045A>G

1 paper

NM_021185.5

p.Y688C

c.2063A>G

1 paper

NM_021185.5

p.N675D

c.2023A>G

1 paper

NM_021185.5

p.Y660S

c.1979A>C

1 paper

NM_021185.5

p.T655P

c.1963A>C

1 paper

NM_021185.5

p.R644C

c.1930C>T

1 paper

NM_021185.5

p.L632fs

c.1894_1895fs

1 paper

NM_021185.5

p.L632delFs

c.1894_1895delCT

1 paper

NM_021185.5

p.Y721_Y722del1

c.2163_2165delCTA

1 paper

NM_021185.5

p.Y721_Y722del2

c.2161_2165del6

1 paper

NM_021185.5

p.A732A

c.2196G>A