Varaico: Literature-Extracted Genetic Variants

Gene:CATSPERT
Variant:p.G411S

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.G411S
c.1231G>A
Surrounding Variants
1 paper
NM_001168221.2
p.S425*
c.1274C>G
1 paper
NM_001168221.2
p.S425*
c.1274C>A
1 paper
NM_001168221.2
p.S438T
c.1312T>A
1 paper
NM_001168221.2
p.A456S
c.1366G>T
1 paper
NM_001168221.2
p.D472N
c.1414G>A
1 paper
NM_001168221.2
p.R473K
c.1418G>A
1 paper
NM_001168221.2
p.P481S
c.1441C>T
1 paper
NM_001168221.2
p.F480insFs
c.1440dupT
1 paper
NM_001168221.2
p.P481fs
c.1441_1442fs
1 paper
NM_001168221.2
p.D388Splc
c.1162+119G>T
4 papers
NM_001168221.2
p.H376Q
c.1128T>G
4 papers
NM_001168221.2
p.H376Q
c.1128T>A
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