Varaico: Literature-Extracted Genetic Variants

Gene:CATSPERT
Variant:p.E1207Q

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.E1207Q
c.3619G>C
Surrounding Variants
1 paper
NM_001168221.2
p.I1220T
c.3659T>C
1 paper
NM_001168221.2
p.D1221H
c.3661G>C
2 papers
NM_001168221.2
p.S1230F
c.3689C>T
1 paper
NM_001168221.2
p.S1263_S1264insFs
c.3789_3790ins8
1 paper
NM_001168221.2
p.S1264fs
c.3790_3791fs
1 paper
NM_001168221.2
p.E1144K
c.3430G>A
1 paper
NM_001168221.2
p.G1287R
c.3859G>C
1 paper
NM_001168221.2
p.F1290L
c.3868T>C
1 paper
NM_001168221.2
p.F1290L
c.3870T>G
1 paper
NM_001168221.2
p.F1290L
c.3870T>A
1 paper
NM_001168221.2
p.I1307T
c.3920T>C
1 paper
NM_001168221.2
p.S1310*
c.3929C>G
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