Varaico: Literature-Extracted Genetic Variants

Gene:CAMSAP1
Variant:p.K206K

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
2 papers
NM_015447.4
p.K206K
c.618A>G
Surrounding Variants
1 paper
NM_015447.4
p.T204A
c.610A>G
1 paper
NM_015447.4
p.V196I
c.586G>A
1 paper
NM_015447.4
p.H220Y
c.658C>T
1 paper
NM_015447.4
p.P236S
c.706C>T
1 paper
NM_015447.4
p.D247fs
c.739_740fs
1 paper
NM_015447.4
p.D247delFs
c.741delG
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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."