Varaico: Literature-Extracted Genetic Variants

Gene:CATSPER1
Variant:p.H204Q

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
1 paper
NM_053054.4
p.H204Q
c.612C>A
Surrounding Variants
1 paper
NM_053054.4
p.H204Q
c.612C>G
1 paper
NM_053054.4
p.H193L
c.578A>T
5 papers
NM_053054.4
p.L180_P181insFs
c.540_541insT
1 paper
NM_053054.4
p.R230C
c.688C>T
1 paper
NM_053054.4
p.R230H
c.689G>A
1 paper
NM_053054.4
p.G170D
c.509G>A
1 paper
NM_053054.4
p.P167S
c.499C>T
3 papers
NM_053054.4
p.V166M
c.496G>A
1 paper
NM_053054.4
p.G244R
c.730G>C
1 paper
NM_053054.4
p.G244R
c.730G>A
1 paper
NM_053054.4
p.S251P
c.751T>C
1 paper
NM_053054.4
p.G146E
c.437G>A
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