Varaico: Literature-Extracted Genetic Variants

Gene:CATSPER1
Variant:p.G112fs

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.G112fs
c.334_335fs
Surrounding Variants
1 paper
NM_053054.4
p.H116Y
c.346C>T
1 paper
NM_053054.4
p.A104T
c.310G>A
1 paper
NM_053054.4
p.Q120Q
c.360A>G
1 paper
NM_053054.4
p.G123A
c.368G>C
1 paper
NM_053054.4
p.G123_R125del3
c.367_374del9
1 paper
NM_053054.4
p.D128H
c.382G>C
1 paper
NM_053054.4
p.Y132Y
c.396C>T
5 papers
NM_053054.4
p.G133S
c.397G>A
1 paper
NM_053054.4
p.V75_H80insFs
c.224_240dup17
1 paper
NM_053054.4
p.S78T
c.232T>A
1 paper
NM_053054.4
p.G146E
c.437G>A
1 paper
NM_053054.4
p.Q77R
c.230A>G
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