Varaico: Literature-Extracted Genetic Variants

Gene:CAMSAP2
Variant:p.I837R

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.I837R
c.2510T>G
Surrounding Variants
1 paper
NM_203459.4
p.D827H
c.2479G>C
1 paper
NM_203459.4
p.G807S
c.2419G>A
1 paper
NM_203459.4
p.A806A
c.2418G>A
1 paper
NM_203459.4
p.D796N
c.2386G>A
2 papers
NM_203459.4
p.L887S
c.2660T>C
1 paper
NM_203459.4
p.R784S
c.2352G>C
1 paper
NM_203459.4
p.R784S
c.2352G>T
1 paper
NM_203459.4
p.A774T
c.2320G>A
1 paper
NM_203459.4
p.R931G
c.2791C>G
1 paper
NM_203459.4
p.Q938*
c.2812C>T
1 paper
NM_203459.4
p.R954C
c.2860C>T
1 paper
NM_203459.4
p.D701N
c.2101G>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."