Varaico: Literature-Extracted Genetic Variants

Gene:CATSPERT

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
1–12 of 136 variants
4 papers
NM_001168221.2
p.H376Q
c.1128T>G
4 papers
NM_001168221.2
p.H376Q
c.1128T>A
3 papers
NM_001168221.2
p.K729fs
c.2185_2186fs
3 papers
NM_001168221.2
p.C1039G
c.3115T>G
3 papers
NM_001168221.2
p.I1816fs
c.5446_5447fs
2 papers
NM_001168221.2
p.K123M
c.368A>T
2 papers
NM_001168221.2
p.G411S
c.1231G>A
2 papers
NM_001168221.2
p.K729fs
c.2185_2186fs
2 papers
NM_001168221.2
p.K729delFs
c.2187delT
2 papers
NM_001168221.2
p.N837fs
c.2509_2510fs
2 papers
NM_001168221.2
p.N837delFs
c.2510delT
2 papers
NM_001168221.2
p.I935V
c.2803A>G
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