Varaico: Literature-Extracted Genetic Variants

Gene:CAMSAP2
Variant:p.Q938*

CAMSAP2

83 papers

Pfam Domains

CH_CAMSAP2_Naa 16–150UCSCCAMSAP2-like, calponin-homology domain
CAMSAP_CHaa 233–316UCSCCAMSAP CH domain
CAMSAP_CHaa 233–316UCSCCAMSAP CH domain
CAMSAP_CC1aa 749–804UCSCSpectrin-binding region of Ca2+-Calmodulin
CAMSAP_CKKaa 1350–1468UCSCMicrotubule-binding calmodulin-regulated spectrin-associated

Gene Aliases

HGNC Name

calmodulin regulated spectrin associated protein family member 2

HGNC Previous Symbol

CAMSAP1L1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_203459.4
p.Q938*
c.2812C>T
Surrounding Variants
1 paper
NM_203459.4
p.R931G
c.2791C>G
1 paper
NM_203459.4
p.R954C
c.2860C>T
1 paper
NM_203459.4
p.P980S
c.2938C>T
1 paper
NM_203459.4
p.P987L
c.2960C>T
2 papers
NM_203459.4
p.L887S
c.2660T>C
1 paper
NM_203459.4
p.N989D
c.2965A>G
1 paper
NM_203459.4
p.R996W
c.2986C>T
1 paper
NM_203459.4
p.R1005G
c.3013A>G
1 paper
NM_203459.4
p.G1026*
c.3076G>T
1 paper
NM_203459.4
p.P1028R
c.3083C>G
1 paper
NM_203459.4
p.I837R
c.2510T>G
1 paper
NM_203459.4
p.D827H
c.2479G>C
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