Varaico: Literature-Extracted Genetic Variants

Gene:MAPRE3
Variant:p.V24D

MAPRE3

150 papers

RefSeq Summary

The protein encoded by this gene is a member of the RP/EB family of genes. The protein localizes to the cytoplasmic microtubule network and binds APCL, a homolog of the adenomatous polyposis coli tum...

Pfam Domains

CHaa 14–120UCSCCalponin homology (CH) domain
EB1aa 219–257UCSCEB1-like C-terminal motif

Gene Aliases

HGNC Name

microtubule associated protein RP/EB family member 3

HGNC Alias Symbols

RP3; EB3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_012326.4
p.V24D
c.71T>A
Surrounding Variants
1 paper
NM_012326.4
p.D26_S27insFs
c.78_79insCA
1 paper
NM_012326.4
p.L28M
c.82C>A
1 paper
NM_012326.4
p.S16insFs
c.47dupG
1 paper
NM_012326.4
p.I35I
c.105A>T
1 paper
NM_012326.4
p.T8insFs
c.22dupA
1 paper
NM_012326.4
p.V5L
c.13G>C
1 paper
NM_012326.4
p.V5delFs
c.13_14delGT
2 papers
NM_012326.4
p.N4insFs
c.10_11ins5
1 paper
NM_012326.4
p.V3A
c.8T>C
1 paper
NM_012326.4
p.M1_A2insFs
c.3_4insT
1 paper
NM_012326.4
p.M1insFs
c.2dupT
1 paper
NM_012326.4
p.G41Splc
c.122-192G>A
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