Varaico: Literature-Extracted Genetic Variants

Gene:CATSPER1
Variant:p.V652I

CATSPER1

101 papers

RefSeq Summary

Calcium ions play a primary role in the regulation of sperm motility. This gene belongs to a family of putative cation channels that are specific to spermatozoa and localize to the flagellum. The prot...

Pfam Domains

Ion_transaa 446–678UCSCIon transport protein

Gene Aliases

HGNC Name

cation channel sperm associated 1

HGNC Previous Name

cation channel, sperm associated 1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_053054.4
p.V652I
c.1954G>A
Surrounding Variants
1 paper
NM_053054.4
p.V652L
c.1954G>T
1 paper
NM_053054.4
p.V652L
c.1954G>C
1 paper
NM_053054.4
p.Y659Y
c.1977C>T
2 papers
NM_053054.4
p.A685V
c.2054C>T
1 paper
NM_053054.4
p.K686M
c.2057A>T
1 paper
NM_053054.4
p.E688_R689Splc
c.2064+6G>A
1 paper
NM_053054.4
p.R612R
c.1836C>T
1 paper
NM_053054.4
p.K611fs
c.1831_1832fs
1 paper
NM_053054.4
p.P610delFs
c.1830delG
1 paper
NM_053054.4
p.S598S
c.1794C>T
1 paper
NM_053054.4
p.S598Y
c.1793C>A
1 paper
NM_053054.4
p.A691T
c.2071G>A
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