Varaico: Literature-Extracted Genetic Variants

Gene:CAMSAP3
Variant:p.A5V

CAMSAP3

77 papers

Pfam Domains

CH_CAMSAP2_Naa 18–151UCSCCAMSAP2-like, calponin-homology domain
CAMSAP_CHaa 214–296UCSCCAMSAP CH domain
CAMSAP_CC1aa 585–643UCSCSpectrin-binding region of Ca2+-Calmodulin
CAMSAP_CKKaa 1110–1228UCSCMicrotubule-binding calmodulin-regulated spectrin-associated

Gene Aliases

HGNC Name

calmodulin regulated spectrin associated protein family member 3

HGNC Previous Symbol

KIAA1543

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_020902.2
p.A5V
c.14C>T
Surrounding Variants
1 paper
NM_020902.2
p.G10V
c.29G>T
1 paper
NM_020902.2
p.V52M
c.154G>A
1 paper
NM_020902.2
p.P53T
c.157C>A
1 paper
NM_020902.2
p.A81G
c.242C>G
1 paper
NM_020902.2
p.R89H
c.266G>A
1 paper
NM_020902.2
p.P99L
c.296C>T
1 paper
NM_020902.2
p.L108R
c.323T>G
1 paper
NM_020902.2
p.G112fs
c.334_335fs
2 papers
NM_020902.2
p.A125P
c.373G>C
1 paper
NM_020902.2
p.D126Y
c.376G>T
1 paper
NM_020902.2
p.P131P
c.393C>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."