Varaico: Literature-Extracted Genetic Variants

Gene:CATSPERE
Variant:p.T798del1

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
1 paper
NM_001130957.2
p.T798del1
c.2392_2393delACT
Surrounding Variants
3 papers
NM_001130957.2
p.T798_A800del0
c.2393_2398del6
1 paper
NM_001130957.2
p.R790S
c.2370G>C
1 paper
NM_001130957.2
p.R790S
c.2370G>T
2 papers
NM_001130957.2
p.G789S
c.2365G>A
1 paper
NM_001130957.2
p.M814I
c.2442G>A
1 paper
NM_001130957.2
p.M814I
c.2442G>C
1 paper
NM_001130957.2
p.M814I
c.2442G>T
1 paper
NM_001130957.2
p.W827*
c.2480G>A
1 paper
NM_001130957.2
p.W827*
c.2481G>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."