Varaico: Literature-Extracted Genetic Variants

Gene:CAMSAP1
Variant:p.P1267L

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
Selected Variant
4 papers
NM_015447.4
p.P1267L
c.3800C>T
Surrounding Variants
1 paper
NM_015447.4
p.E1262K
c.3784G>A
1 paper
NM_015447.4
p.A1257V
c.3770C>T
1 paper
NM_015447.4
p.S1252I
c.3755G>T
1 paper
NM_015447.4
p.D1247G
c.3740A>G
1 paper
NM_015447.4
p.D1245fs
c.3733_3734fs
1 paper
NM_015447.4
p.S1216L
c.3647C>T
1 paper
NM_015447.4
p.E1207E
c.3621G>A
1 paper
NM_015447.4
p.S1204N
c.3611G>A
1 paper
NM_015447.4
p.L1191V
c.3571C>G
1 paper
NM_015447.4
p.R1178Q
c.3533G>A
1 paper
NM_015447.4
p.S1120R
c.3360T>G
1 paper
NM_015447.4
p.S1120R
c.3360T>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."