Varaico: Literature-Extracted Genetic Variants

Gene:CATSPERD
Variant:p.E596D

CATSPERD

63 papers

Pfam Domains

Beta-prop_CATSPERDaa 42–369UCSCCATSPERD, beta-propeller domain
Ig-like_CATSPERDaa 389–508UCSCCATSPERD Ig-like domain
CATSPERD-E_Caa 538–751UCSCCATSPERD/E C-terminal domain

Gene Aliases

HGNC Name

catsper channel auxiliary subunit delta

HGNC Previous Symbol

TMEM146

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
4 papers
NM_152784.4
p.E596D
c.1788G>T
Surrounding Variants
4 papers
NM_152784.4
p.E596D
c.1788G>C
1 paper
NM_152784.4
p.S614S
c.1842C>T
1 paper
NM_152784.4
p.S621L
c.1862C>T
3 papers
NM_152784.4
p.G639R
c.1915G>A
3 papers
NM_152784.4
p.G639R
c.1915G>C
1 paper
NM_152784.4
p.V563M
c.1687G>A
1 paper
NM_152784.4
p.Q555E
c.1663C>G
1 paper
NM_152784.4
p.L661M
c.1981T>A
1 paper
NM_152784.4
p.R674W
c.2020C>T
1 paper
NM_152784.4
p.G682S
c.2044G>A
1 paper
NM_152784.4
p.H683R
c.2048A>G
1 paper
NM_152784.4
p.I543I
c.1629C>T
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