Varaico: Literature-Extracted Genetic Variants

Gene:CATSPERT
Variant:p.Q1595*

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.Q1595*
c.4783C>T
Surrounding Variants
1 paper
NM_001168221.2
p.K1589*
c.4765A>T
1 paper
NM_001168221.2
p.T1570N
c.4709C>A
2 papers
NM_001168221.2
p.E1620fs
c.4858_4859fs
1 paper
NM_001168221.2
p.E1620fs
c.4858_4859fs
2 papers
NM_001168221.2
p.E1620_I1621delFs
c.4858_4861del4
1 paper
NM_001168221.2
p.T1623S
c.4867A>T
1 paper
NM_001168221.2
p.T1623S
c.4868C>G
1 paper
NM_001168221.2
p.P1544T
c.4630C>A
1 paper
NM_001168221.2
p.K1666K
c.4998G>A
1 paper
NM_001168221.2
p.I1667K
c.5000T>A
1 paper
NM_001168221.2
p.S1514A
c.4540T>G
1 paper
NM_001168221.2
p.L1706L
c.5118A>G
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