Varaico: Literature-Extracted Genetic Variants

Gene:CAMSAP1
Variant:p.I139T

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.I139T
c.416T>C
Surrounding Variants
1 paper
NM_015447.4
p.R136H
c.407G>A
1 paper
NM_015447.4
p.R116W
c.346C>T
2 papers
NM_015447.4
p.S115F
c.344C>T
1 paper
NM_015447.4
p.A113A
c.339C>G
1 paper
NM_015447.4
p.G106G
c.318A>G
3 papers
NM_015447.4
p.R90H
c.269G>A
1 paper
NM_015447.4
p.M145L
c.433A>T
1 paper
NM_015447.4
p.M145L
c.433A>C
1 paper
NM_015447.4
p.M145I
c.435G>T
1 paper
NM_015447.4
p.M145I
c.435G>C
1 paper
NM_015447.4
p.M145I
c.435G>A
1 paper
NM_015447.4
p.A146G
c.437C>G
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