Varaico: Literature-Extracted Genetic Variants

Gene:CATSPER1
Variant:p.R408R

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
2 papers
NM_053054.4
p.R408R
c.1222C>A
Surrounding Variants
1 paper
NM_053054.4
p.R413H
c.1238G>A
1 paper
NM_053054.4
p.W424R
c.1270T>C
1 paper
NM_053054.4
p.W424R
c.1270T>A
1 paper
NM_053054.4
p.W426R
c.1276T>C
1 paper
NM_053054.4
p.W426R
c.1276T>A
1 paper
NM_053054.4
p.R437Q
c.1310G>A
1 paper
NM_053054.4
p.L447S
c.1340T>C
1 paper
NM_053054.4
p.A448D
c.1343C>A
1 paper
NM_053054.4
p.A466V
c.1397C>T
1 paper
NM_053054.4
p.T406Splc
c.1217-278C>T
2 papers
NM_053054.4
p.A495D
c.1484C>A
1 paper
NM_053054.4
p.L496L
c.1486C>T
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