Varaico: Literature-Extracted Genetic Variants

Gene:CATSPER2
Variant:p.I211delFs

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.I211delFs
c.633delG
Surrounding Variants
1 paper
NM_172095.4
p.Q202R
c.605A>G
1 paper
NM_172095.4
p.Q202K
c.604C>A
1 paper
NM_172095.4
p.R225H
c.674G>A
1 paper
NM_172095.4
p.L189insFs
c.566dupT
1 paper
NM_172095.4
p.R236M
c.707G>T
1 paper
NM_172095.4
p.R236K
c.707G>A
1 paper
NM_172095.4
p.K239_S240Splc
c.717+109C>T
1 paper
NM_172095.4
p.L187insFs
c.561dupG
1 paper
NM_172095.4
p.F180_D181insFs
c.540_541insT
2 papers
NM_172095.4
p.V148G
c.443T>G
1 paper
NM_172095.4
p.G259R
c.775G>C
1 paper
NM_172095.4
p.E130Splc
c.389-7T>C
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