Varaico: Literature-Extracted Genetic Variants

Gene:CATSPERB
Variant:p.V248A

CATSPERB

58 papers

Pfam Domains

CATSPERB_1staa 33–152UCSCCATSPER protein subunit beta protein 1st domain
CATSPERB_2ndaa 165–513UCSCCATSPER subunit beta protein 2nd domain
CATSPERB_headaa 539–716UCSCCATSPERB head domain
CATSPERB_Ig-likeaa 722–827UCSCCATSPERB Ig-like domain
CATSPERB_Caa 829–1086UCSCCATSPERB, C-terminal domain

Gene Aliases

HGNC Name

catsper channel auxiliary subunit beta

HGNC Previous Symbol

C14orf161

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
5 papers
NM_024764.4
p.V248A
c.743T>C
Surrounding Variants
1 paper
NM_024764.4
p.Y232fs
c.694_695fs
1 paper
NM_024764.4
p.W224*
c.672G>A
1 paper
NM_024764.4
p.W224*
c.671G>A
1 paper
NM_024764.4
p.T223A
c.667A>G
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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."