Varaico: Literature-Extracted Genetic Variants

Gene:CAMSAP2
Variant:p.I282T

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.I282T
c.845T>C
Surrounding Variants
1 paper
NM_203459.4
p.C286Y
c.857G>A
3 papers
NM_203459.4
p.T297A
c.889A>G
1 paper
NM_203459.4
p.L261S
c.782T>C
1 paper
NM_203459.4
p.A248S
c.742G>T
1 paper
NM_203459.4
p.A317A
c.951G>A
1 paper
NM_203459.4
p.G340R
c.1018G>A
1 paper
NM_203459.4
p.G340R
c.1018G>C
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