Varaico: Literature-Extracted Genetic Variants

Gene:CAMSAP1
Variant:p.S1120R

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
1 paper
NM_015447.4
p.S1120R
c.3360T>G
Surrounding Variants
1 paper
NM_015447.4
p.S1120R
c.3360T>A
1 paper
NM_015447.4
p.S1120R
c.3358A>C
1 paper
NM_015447.4
p.A1105T
c.3313G>A
1 paper
NM_015447.4
p.P1091L
c.3272C>T
1 paper
NM_015447.4
p.P1091S
c.3271C>T
1 paper
NM_015447.4
p.R1088C
c.3262C>T
1 paper
NM_015447.4
p.R1178Q
c.3533G>A
1 paper
NM_015447.4
p.N1062S
c.3185A>G
1 paper
NM_015447.4
p.P1053fs
c.3157_3158fs
1 paper
NM_015447.4
p.L1191V
c.3571C>G
1 paper
NM_015447.4
p.Q1044*
c.3130C>T
1 paper
NM_015447.4
p.S1204N
c.3611G>A
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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."