Varaico: Literature-Extracted Genetic Variants

Gene:CAMSAP3
Variant:p.P692H

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.P692H
c.2075C>A
Surrounding Variants
1 paper
NM_020902.2
p.F684S
c.2051T>C
1 paper
NM_020902.2
p.F684I
c.2050T>A
1 paper
NM_020902.2
p.S704N
c.2111G>A
1 paper
NM_020902.2
p.Q723H
c.2169G>C
1 paper
NM_020902.2
p.Q723H
c.2169G>T
1 paper
NM_020902.2
p.A653T
c.1957G>A
1 paper
NM_020902.2
p.A742G
c.2225C>G
1 paper
NM_020902.2
p.A754delFs
c.2260delG
1 paper
NM_020902.2
p.R762Q
c.2285G>A
1 paper
NM_020902.2
p.R768H
c.2303G>A
1 paper
NM_020902.2
p.P778L
c.2333C>T
1 paper
NM_020902.2
p.R779C
c.2335C>T
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