Varaico: Literature-Extracted Genetic Variants

Gene:CATSPER2
Variant:p.S393Splc

CATSPER2

61 papers

RefSeq Summary

This gene encodes a member of a family of cation channel proteins that localize to the flagellum of spermatozoa. Defects at this locus causes male infertility. Alternatively spliced transcript variant...

Pfam Domains

Ion_transaa 107–352UCSCIon transport protein

Gene Aliases

HGNC Name

cation channel sperm associated 2

HGNC Previous Name

cation channel, sperm associated 2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_172095.4
p.S393Splc
c.1179-15A>C
Surrounding Variants
2 papers
NM_172095.4
p.S393Splc
c.1179-8T>C
2 papers
NM_172095.4
p.S393Splc
c.1179-3A>C
3 papers
NM_172095.4
p.S393Splc
c.1179-2A>T
1 paper
NM_172095.4
p.V412L
c.1234G>T
1 paper
NM_172095.4
p.V412L
c.1234G>C
1 paper
NM_172095.4
p.T430R
c.1289C>G
1 paper
NM_172095.4
p.E439delFs
c.1316_1317delCT
1 paper
NM_172095.4
p.Y440insFs
c.1319dupA
1 paper
NM_172095.4
p.S454_S455del1
c.1362_1364delGAA
1 paper
NM_172095.4
p.G466Splc
c.1397-47A>G
1 paper
NM_172095.4
p.G466Splc
c.1397-5T>C
1 paper
NM_172095.4
p.Q486_D487delFs
c.1458_1459delCC
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