Varaico: Literature-Extracted Genetic Variants

Gene:CATSPERT
Variant:p.G1753*

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.G1753*
c.5257G>T
Surrounding Variants
1 paper
NM_001168221.2
p.P1773L
c.5318C>T
2 papers
NM_001168221.2
p.R1779*
c.5335C>T
1 paper
NM_001168221.2
p.H1724_D1725Splc
c.5173-24T>C
2 papers
NM_001168221.2
p.R1789C
c.5365C>T
1 paper
NM_001168221.2
p.R1790Q
c.5369G>A
1 paper
NM_001168221.2
p.G1795C
c.5383G>T
2 papers
NM_001168221.2
p.M1811_P1813delFs
c.5432_5438del7
1 paper
NM_001168221.2
p.I1816fs
c.5446_5447fs
1 paper
NM_001168221.2
p.I1816insFs
c.5446dupA
2 papers
NM_001168221.2
p.I1816delFs
c.5446delT
3 papers
NM_001168221.2
p.I1816fs
c.5446_5447fs
1 paper
NM_001168221.2
p.L1706L
c.5118A>G
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