Varaico: Literature-Extracted Genetic Variants

Gene:CATSPER1
Variant:p.S505L

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.S505L
c.1514C>T
Surrounding Variants
1 paper
NM_053054.4
p.F507S
c.1520T>C
1 paper
NM_053054.4
p.F507_F508del1
c.1521_1523delAAG
1 paper
NM_053054.4
p.F508del1
c.1522_1523delAAA
1 paper
NM_053054.4
p.L496L
c.1486C>T
2 papers
NM_053054.4
p.A495D
c.1484C>A
1 paper
NM_053054.4
p.D515Splc
c.1544-23G>C
1 paper
NM_053054.4
p.D515Splc
c.1544-6C>T
1 paper
NM_053054.4
p.A522A
c.1566C>T
1 paper
NM_053054.4
p.L527F
c.1581G>T
1 paper
NM_053054.4
p.L527F
c.1581G>C
1 paper
NM_053054.4
p.A556V
c.1667C>T
1 paper
NM_053054.4
p.R558W
c.1672C>T
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