Varaico: Literature-Extracted Genetic Variants

Gene:CAMSAP1
Variant:p.S1398*

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
2 papers
NM_015447.4
p.S1398*
c.4193C>G
Surrounding Variants
2 papers
NM_015447.4
p.S1398*
c.4193C>A
1 paper
NM_015447.4
p.T1396_Q1397insA
c.4186_4190ins3
1 paper
NM_015447.4
p.S1394S
c.4182C>T
1 paper
NM_015447.4
p.D1391N
c.4171G>A
1 paper
NM_015447.4
p.G1418R
c.4252G>C
1 paper
NM_015447.4
p.G1418R
c.4252G>A
1 paper
NM_015447.4
p.G1359A
c.4076G>C
1 paper
NM_015447.4
p.L1358L
c.4074C>T
1 paper
NM_015447.4
p.R1327Q
c.3980G>A
1 paper
NM_015447.4
p.R1302H
c.3905G>A
1 paper
NM_015447.4
p.R1302C
c.3904C>T
1 paper
NM_015447.4
p.K1274_D1275Splc
c.3823-3C>T
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