Varaico: Literature-Extracted Genetic Variants

Gene:CATSPERT
Variant:p.K729insFs

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
1 paper
NM_001168221.2
p.K729insFs
c.2186dupA
Surrounding Variants
2 papers
NM_001168221.2
p.K729delFs
c.2187delT
3 papers
NM_001168221.2
p.K729fs
c.2185_2186fs
2 papers
NM_001168221.2
p.K729fs
c.2185_2186fs
1 paper
NM_001168221.2
p.E727K
c.2179G>A
1 paper
NM_001168221.2
p.K739R
c.2216A>G
1 paper
NM_001168221.2
p.G794C
c.2380G>T
1 paper
NM_001168221.2
p.P814S
c.2440C>T
1 paper
NM_001168221.2
p.K823*
c.2467A>T
1 paper
NM_001168221.2
p.K823fs
c.2467_2468fs
1 paper
NM_001168221.2
p.K823delFs
c.2469delT
1 paper
NM_001168221.2
p.H824fs
c.2470_2471fs
1 paper
NM_001168221.2
p.H824insFs
c.2471_2472ins7
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