Varaico: Literature-Extracted Genetic Variants

Gene:CAMSAP3
Variant:p.A904V

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
2 papers
NM_020902.2
p.A904V
c.2711C>T
Surrounding Variants
1 paper
NM_020902.2
p.A904A
c.2712C>T
1 paper
NM_020902.2
p.R913P
c.2738G>C
1 paper
NM_020902.2
p.A936T
c.2806G>A
1 paper
NM_020902.2
p.P946S
c.2836C>T
1 paper
NM_020902.2
p.V950L
c.2848G>C
1 paper
NM_020902.2
p.V950L
c.2848G>T
1 paper
NM_020902.2
p.E983*
c.2947G>T
1 paper
NM_020902.2
p.R1019C
c.3055C>T
1 paper
NM_020902.2
p.R1040W
c.3118C>T
1 paper
NM_020902.2
p.A1056_H1060del5
c.3166_3179del15
1 paper
NM_020902.2
p.A1056_H1060del0
c.3168_3179del12
1 paper
NM_020902.2
p.V1065A
c.3194T>C
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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."