Varaico: Literature-Extracted Genetic Variants

Gene:CATSPERT
Variant:p.K123M

CATSPERT

103 papers

RefSeq Summary

An autosomal recessive form of juvenile amyotrophic lateral sclerosis was originally mapped to a region of chromosome 2 that includes this gene. The encoded protein contains a calcium-dependent membra...

Pfam Domains

CTSRTaa 100–242UCSCCation channel sperm-associated targeting subunit tau

Gene Aliases

HGNC Name

catsper channel auxiliary subunit tau

HGNC Previous Symbols

ALS2CR11; C2CD6

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_001168221.2
p.K123M
c.368A>T
Surrounding Variants
1 paper
NM_001168221.2
p.K115N
c.345G>T
1 paper
NM_001168221.2
p.K115N
c.345G>C
1 paper
NM_001168221.2
p.H113R
c.338A>G
1 paper
NM_001168221.2
p.G108fs
c.322_323fs
1 paper
NM_001168221.2
p.G108V
c.323G>T
1 paper
NM_001168221.2
p.V106_V107Splc
c.319-138A>T
1 paper
NM_001168221.2
p.I138M
c.414A>G
1 paper
NM_001168221.2
p.T97T
c.291G>A
1 paper
NM_001168221.2
p.E156K
c.466G>A
1 paper
NM_001168221.2
p.K157N
c.471G>T
1 paper
NM_001168221.2
p.K157N
c.471G>C
1 paper
NM_001168221.2
p.E156_E165del0
c.468_494del27
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