Varaico: Literature-Extracted Genetic Variants

Gene:CATSPER1
Variant:p.Q287delFs

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.Q287delFs
c.859_860delTG
Surrounding Variants
1 paper
NM_053054.4
p.Q287fs
c.859_860fs
1 paper
NM_053054.4
p.H289N
c.865C>A
3 papers
NM_053054.4
p.R295W
c.883C>T
1 paper
NM_053054.4
p.H279L
c.836A>T
1 paper
NM_053054.4
p.P274H
c.821C>A
1 paper
NM_053054.4
p.P274S
c.820C>T
1 paper
NM_053054.4
p.H302L
c.905A>T
1 paper
NM_053054.4
p.H306H
c.918C>T
1 paper
NM_053054.4
p.A308V
c.923C>T
1 paper
NM_053054.4
p.H264Q
c.792C>G
1 paper
NM_053054.4
p.H264Q
c.792C>A
1 paper
NM_053054.4
p.H264Y
c.790C>T
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