Varaico: Literature-Extracted Genetic Variants

Gene:CAMSAP1

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
1–12 of 126 variants
4 papers
NM_015447.4
p.P1267L
c.3800C>T
3 papers
NM_015447.4
p.R90H
c.269G>A
2 papers
NM_015447.4
p.S115F
c.344C>T
2 papers
NM_015447.4
p.T174M
c.521C>T
2 papers
NM_015447.4
p.K206K
c.618A>G
2 papers
NM_015447.4
p.T466insFs
c.1396_1397insA
2 papers
NM_015447.4
p.G705V
c.2114G>T
2 papers
NM_015447.4
p.S1398*
c.4193C>G
2 papers
NM_015447.4
p.S1398*
c.4193C>A
1 paper
NM_015447.4
p.A23P
c.67G>C
1 paper
NM_015447.4
p.A37S
c.109G>T
1 paper
NM_015447.4
p.G106G
c.318A>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."