Varaico: Literature-Extracted Genetic Variants

Gene:CAMSAP1
Variant:p.M899L

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.M899L
c.2695A>C
Surrounding Variants
1 paper
NM_015447.4
p.M899L
c.2695A>T
1 paper
NM_015447.4
p.K898_M899del1
c.2693_2695delTCT
1 paper
NM_015447.4
p.K898_M899del2
c.2692_2696del6
1 paper
NM_015447.4
p.A901T
c.2701G>A
1 paper
NM_015447.4
p.Q906fs
c.2716_2717fs
1 paper
NM_015447.4
p.R907H
c.2720G>A
1 paper
NM_015447.4
p.R889G
c.2665C>G
1 paper
NM_015447.4
p.Q906_A913delFs
c.2717_2738del22
1 paper
NM_015447.4
p.Q880*
c.2638C>T
1 paper
NM_015447.4
p.V879L
c.2635G>T
1 paper
NM_015447.4
p.V879L
c.2635G>C
1 paper
NM_015447.4
p.G922S
c.2764G>A
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