Varaico: Literature-Extracted Genetic Variants

Gene:CATSPER2
Variant:p.K54delFs

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.K54delFs
c.162delC
Surrounding Variants
1 paper
NM_172095.4
p.K55fs
c.163_164fs
2 papers
NM_172095.4
p.V57I
c.169G>A
1 paper
NM_172095.4
p.L56delFs
c.167delA
1 paper
NM_172095.4
p.Q76R
c.227A>G
1 paper
NM_172095.4
p.C91*
c.273C>A
1 paper
NM_172095.4
p.S92R
c.274A>C
1 paper
NM_172095.4
p.S98P
c.292T>C
1 paper
NM_172095.4
p.A101P
c.301G>C
1 paper
NM_172095.4
p.G102A
c.305G>C
1 paper
NM_172095.4
p.W103fs
c.307_308fs
1 paper
NM_172095.4
p.H42Y
c.124C>T
1 paper
NM_172095.4
p.H31L
c.92A>T
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