Varaico: Literature-Extracted Genetic Variants

Gene:CAMSAP1
Variant:p.S563*

CAMSAP1

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
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_015447.4
p.S563*
c.1688C>G
Surrounding Variants
1 paper
NM_015447.4
p.S563*
c.1688C>A
1 paper
NM_015447.4
p.L569insFs
c.1707dupT
1 paper
NM_015447.4
p.T570fs
c.1708_1709fs
1 paper
NM_015447.4
p.R574W
c.1720C>T
1 paper
NM_015447.4
p.G526W
c.1576G>T
1 paper
NM_015447.4
p.K611*
c.1831A>T
1 paper
NM_015447.4
p.G616E
c.1847G>A
1 paper
NM_015447.4
p.R627K
c.1880G>A
1 paper
NM_015447.4
p.A476V
c.1427C>T
2 papers
NM_015447.4
p.G705V
c.2114G>T
1 paper
NM_015447.4
p.D737N
c.2209G>A
1 paper
NM_015447.4
p.V759A
c.2276T>C
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