Varaico: Literature-Extracted Genetic Variants

Gene:CAMSAP3
Variant:p.H809delFs

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.H809delFs
c.2425delC
Surrounding Variants
1 paper
NM_020902.2
p.A829V
c.2486C>T
1 paper
NM_020902.2
p.R779C
c.2335C>T
1 paper
NM_020902.2
p.E836V
c.2507A>T
1 paper
NM_020902.2
p.P778L
c.2333C>T
1 paper
NM_020902.2
p.R840W
c.2518C>T
1 paper
NM_020902.2
p.R768H
c.2303G>A
1 paper
NM_020902.2
p.R762Q
c.2285G>A
1 paper
NM_020902.2
p.A754delFs
c.2260delG
1 paper
NM_020902.2
p.A742G
c.2225C>G
1 paper
NM_020902.2
p.Q723H
c.2169G>C
1 paper
NM_020902.2
p.Q723H
c.2169G>T
1 paper
NM_020902.2
p.S704N
c.2111G>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."