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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CAMSAP1

Variant:p.A23P

CAMSAP1

9q34.3 (UCSC)OMIM PanelApp GTEx

96 papers

Pfam Domains

CH_CAMSAP2_Naa 23–158UCSCCAMSAP2-like, calponin-homology domain

CAMSAP_CHaa 229–312UCSCCAMSAP CH domain

CAMSAP_CC1aa 863–921UCSCSpectrin-binding region of Ca2+-Calmodulin

CAMSAP_CKKaa 1464–1582UCSCMicrotubule-binding calmodulin-regulated spectrin-associated

Gene Aliases

HGNC Name

calmodulin regulated spectrin associated protein 1

HGNC Alias Symbols

FLJ31228; DKFZp434F195

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

chr9:135907093 C>G

NM_015447.4

p.A23P

c.67G>C

Exome: 0.0% (AC=0, hom=0)Genome: n/a4 overlapping SVs

Surrounding Variants

chr9:135907051 C>A

NM_015447.4

p.A37S

c.109G>T

Exome: 0.0% (AC=2, hom=0)Genome: n/a4 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."