Varaico: Literature-Extracted Genetic Variants

Gene:CATSPER1
Variant:p.H41_H42del2

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.H41_H42del2
c.121_125del6
Surrounding Variants
1 paper
NM_053054.4
p.H41_H42del1
c.123_125delTGG
1 paper
NM_053054.4
p.H48D
c.142C>G
1 paper
NM_053054.4
p.H48H
c.144C>T
1 paper
NM_053054.4
p.G49S
c.145G>A
1 paper
NM_053054.4
p.H48delFs
c.144delG
1 paper
NM_053054.4
p.G49fs
c.145_146fs
2 papers
NM_053054.4
p.V50M
c.148G>A
2 papers
NM_053054.4
p.R54C
c.160C>T
1 paper
NM_053054.4
p.F66Y
c.197T>A
1 paper
NM_053054.4
p.N18N
c.54C>T
1 paper
NM_053054.4
p.A14delFs
c.41_42delTG
1 paper
NM_053054.4
p.Q77R
c.230A>G
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