Varaico: Literature-Extracted Genetic Variants

Gene:CAMSAP1
Variant:p.V759A

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.V759A
c.2276T>C
Surrounding Variants
1 paper
NM_015447.4
p.I765T
c.2294T>C
1 paper
NM_015447.4
p.D737N
c.2209G>A
2 papers
NM_015447.4
p.G705V
c.2114G>T
1 paper
NM_015447.4
p.K813N
c.2439G>T
1 paper
NM_015447.4
p.K813N
c.2439G>C
1 paper
NM_015447.4
p.A818V
c.2453C>T
1 paper
NM_015447.4
p.S827I
c.2480G>T
1 paper
NM_015447.4
p.E829Q
c.2485G>C
1 paper
NM_015447.4
p.P849Q
c.2546C>A
1 paper
NM_015447.4
p.E860*
c.2578G>T
1 paper
NM_015447.4
p.A871T
c.2611G>A
1 paper
NM_015447.4
p.V879L
c.2635G>T
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