Varaico: Literature-Extracted Genetic Variants

Gene:CATSPERT
Variant:p.D1372N

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.D1372N
c.4114G>A
Surrounding Variants
1 paper
NM_001168221.2
p.S1327R
c.3981T>G
1 paper
NM_001168221.2
p.S1327R
c.3981T>A
1 paper
NM_001168221.2
p.S1327R
c.3979A>C
2 papers
NM_001168221.2
p.Q1326H
c.3978G>T
2 papers
NM_001168221.2
p.Q1326H
c.3978G>C
1 paper
NM_001168221.2
p.P1419T
c.4255C>A
1 paper
NM_001168221.2
p.S1310*
c.3929C>G
1 paper
NM_001168221.2
p.S1310*
c.3929C>A
1 paper
NM_001168221.2
p.I1307T
c.3920T>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.F1290L
c.3868T>C
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