Varaico: Literature-Extracted Genetic Variants

Gene:CAMSAP3
Variant:p.V534delFs

CAMSAP3

77 papers

Pfam Domains

CH_CAMSAP2_Naa 18–151UCSCCAMSAP2-like, calponin-homology domain
CAMSAP_CHaa 214–296UCSCCAMSAP CH domain
CAMSAP_CC1aa 585–643UCSCSpectrin-binding region of Ca2+-Calmodulin
CAMSAP_CKKaa 1110–1228UCSCMicrotubule-binding calmodulin-regulated spectrin-associated

Gene Aliases

HGNC Name

calmodulin regulated spectrin associated protein family member 3

HGNC Previous Symbol

KIAA1543

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_020902.2
p.V534delFs
c.1601delT
Surrounding Variants
1 paper
NM_020902.2
p.V534fs
c.1600_1601fs
1 paper
NM_020902.2
p.A537V
c.1610C>T
1 paper
NM_020902.2
p.S538L
c.1613C>T
1 paper
NM_020902.2
p.V551M
c.1651G>A
1 paper
NM_020902.2
p.S553L
c.1658C>T
1 paper
NM_020902.2
p.S510F
c.1529C>T
2 papers
NM_020902.2
p.P508T
c.1522C>A
1 paper
NM_020902.2
p.S560F
c.1679C>T
1 paper
NM_020902.2
p.V562E
c.1685T>A
1 paper
NM_020902.2
p.L496P
c.1487T>C
1 paper
NM_020902.2
p.K493*
c.1477A>T
1 paper
NM_020902.2
p.T587M
c.1760C>T
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