Varaico: Literature-Extracted Genetic Variants

Gene:CATSPER1
Variant:p.E398K

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.E398K
c.1192G>A
Surrounding Variants
1 paper
NM_053054.4
p.T383fs
c.1147_1148fs
1 paper
NM_053054.4
p.T406Splc
c.1216+26C>T
1 paper
NM_053054.4
p.R371H
c.1112G>A
1 paper
NM_053054.4
p.R365Q
c.1094G>A
1 paper
NM_053054.4
p.M363T
c.1088T>C
1 paper
NM_053054.4
p.G358D
c.1073G>A
1 paper
NM_053054.4
p.R345R
c.1035T>C
1 paper
NM_053054.4
p.P341S
c.1021C>T
1 paper
NM_053054.4
p.H336N
c.1006C>A
1 paper
NM_053054.4
p.R332Q
c.995G>A
1 paper
NM_053054.4
p.R332W
c.994C>T
1 paper
NM_053054.4
p.S331S
c.993C>A
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