Varaico: Literature-Extracted Genetic Variants

Gene:CAMSAP1
Variant:p.T466P

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.T466P
c.1396A>C
Surrounding Variants
1 paper
NM_015447.4
p.T466fs
c.1396_1397fs
2 papers
NM_015447.4
p.T466insFs
c.1396_1397insA
1 paper
NM_015447.4
p.T466delFs
c.1396delT
1 paper
NM_015447.4
p.W461*
c.1383G>A
1 paper
NM_015447.4
p.W461*
c.1382G>A
1 paper
NM_015447.4
p.Q453Q
c.1359G>A
1 paper
NM_015447.4
p.R467Splc
c.1400+118G>A
1 paper
NM_015447.4
p.A476V
c.1427C>T
1 paper
NM_015447.4
p.G526W
c.1576G>T
1 paper
NM_015447.4
p.T412delFs
c.1234delT
1 paper
NM_015447.4
p.S563*
c.1688C>G
1 paper
NM_015447.4
p.S563*
c.1688C>A
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