Varaico: Literature-Extracted Genetic Variants

Gene:CAMSAP3
Variant:p.R1145H

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.R1145H
c.3434G>A
Surrounding Variants
1 paper
NM_020902.2
p.I1146F
c.3436A>T
1 paper
NM_020902.2
p.N1121H
c.3361A>C
1 paper
NM_020902.2
p.F1169delFs
c.3507delC
1 paper
NM_020902.2
p.R1210C
c.3628C>T
1 paper
NM_020902.2
p.L1084L
c.3252G>A
1 paper
NM_020902.2
p.M1221I
c.3663G>C
1 paper
NM_020902.2
p.A1072T
c.3214G>A
1 paper
NM_020902.2
p.P1238delFs
c.3712delC
1 paper
NM_020902.2
p.T1239fs
c.3715_3716fs
1 paper
NM_020902.2
p.R1071Splc
c.3212+1G>C
1 paper
NM_020902.2
p.R1067W
c.3199A>T
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."