Varaico: Literature-Extracted Genetic Variants

Gene:CATSPERT
Variant:p.M330T

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.M330T
c.989T>C
Surrounding Variants
1 paper
NM_001168221.2
p.R326M
c.977G>T
1 paper
NM_001168221.2
p.K358N
c.1074G>T
1 paper
NM_001168221.2
p.K358N
c.1074G>C
1 paper
NM_001168221.2
p.E361_E362Splc
c.1084-51C>G
1 paper
NM_001168221.2
p.A368T
c.1102G>A
4 papers
NM_001168221.2
p.H376Q
c.1128T>G
4 papers
NM_001168221.2
p.H376Q
c.1128T>A
1 paper
NM_001168221.2
p.D388Splc
c.1162+119G>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."