Varaico: Literature-Extracted Genetic Variants

Gene:CATSPERE
Variant:p.R70H

CATSPERE

52 papers

Pfam Domains

CATSPERE_NTD1aa 8–96UCSCCATSPERE first N-terminal domain
CATSPERE_NTD2aa 101–186UCSCCATSPERE second N-terminal domain
Beta-prop_CATSPEREaa 228–577UCSCCATSPERE beta-propeller domain
CATSPERE_Ig-likeaa 587–697UCSCCATSPERE Ig-like domain
CATSPERD-E_Caa 723–934UCSCCATSPERD/E C-terminal domain

Gene Aliases

HGNC Name

catsper channel auxiliary subunit epsilon

HGNC Previous Symbol

C1orf101

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_001130957.2
p.R70H
c.209G>A
Surrounding Variants
2 papers
NM_001130957.2
p.T66K
c.197C>A
1 paper
NM_001130957.2
p.G75_K80insFs
c.224_240dup17
1 paper
NM_001130957.2
p.S64T
c.190T>A
1 paper
NM_001130957.2
p.A78T
c.232G>A
1 paper
NM_001130957.2
p.T49I
c.146C>T
1 paper
NM_001130957.2
p.G45V
c.134G>T
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