Varaico: Literature-Extracted Genetic Variants

Gene:CAMSAP2

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
1–12 of 94 variants
3 papers
NM_203459.4
p.T297A
c.889A>G
2 papers
NM_203459.4
p.F474L
c.1420T>C
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.Q536H
c.1608G>C
2 papers
NM_203459.4
p.Q536H
c.1608G>T
2 papers
NM_203459.4
p.L887S
c.2660T>C
1 paper
NM_203459.4
p.D3fs
c.7_8fs
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
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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."