Varaico: Literature-Extracted Genetic Variants

Gene:CAMSAP2
Variant:p.D3fs

CAMSAP2

83 papers

Pfam Domains

CH_CAMSAP2_Naa 16–150UCSCCAMSAP2-like, calponin-homology domain
CAMSAP_CHaa 233–316UCSCCAMSAP CH domain
CAMSAP_CHaa 233–316UCSCCAMSAP CH domain
CAMSAP_CC1aa 749–804UCSCSpectrin-binding region of Ca2+-Calmodulin
CAMSAP_CKKaa 1350–1468UCSCMicrotubule-binding calmodulin-regulated spectrin-associated

Gene Aliases

HGNC Name

calmodulin regulated spectrin associated protein family member 2

HGNC Previous Symbol

CAMSAP1L1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_203459.4
p.D3fs
c.7_8fs
Surrounding Variants
1 paper
NM_203459.4
p.R11K
c.32G>A
1 paper
NM_203459.4
p.P21S
c.61C>T
1 paper
NM_203459.4
p.H24N
c.70C>A
1 paper
NM_203459.4
p.Y25C
c.74A>G
1 paper
NM_203459.4
p.C34S
c.100T>A
1 paper
NM_203459.4
p.C34S
c.101G>C
1 paper
NM_203459.4
p.G45E
c.134G>A
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