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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CATSPERB

Variant:p.D152V

CATSPERB

14q32.12 (UCSC)OMIM GTEx

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

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

chr14:91708152 T>A

NM_024764.4

p.D152V

c.455A>T

exact variant not in gnomAD6 overlapping SVs

Surrounding Variants

chr14:91708144 G>A

NM_024764.4

p.R155*

c.463C>T

Exome: 0.0% (AC=19, hom=0)Genome: n/a6 overlapping SVs

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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."