Varaico: Literature-Extracted Genetic Variants

Gene:CAMSAP2
Variant:p.N514Y

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.N514Y
c.1540A>T
Surrounding Variants
2 papers
NM_203459.4
p.Q536H
c.1608G>C
2 papers
NM_203459.4
p.Q536H
c.1608G>T
2 papers
NM_203459.4
p.F474L
c.1422C>A
2 papers
NM_203459.4
p.F474L
c.1422C>G
2 papers
NM_203459.4
p.F474L
c.1420T>C
1 paper
NM_203459.4
p.N460Y
c.1378A>T
1 paper
NM_203459.4
p.D594N
c.1780G>A
1 paper
NM_203459.4
p.V427I
c.1279G>A
1 paper
NM_203459.4
p.M623T
c.1868T>C
1 paper
NM_203459.4
p.S638insFs
c.1912_1913ins35
1 paper
NM_203459.4
p.A643S
c.1927G>T
1 paper
NM_203459.4
p.L661F
c.1983G>C
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