Varaico: Literature-Extracted Genetic Variants

Gene:MAPRE3
Variant:p.R231C

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.R231C
c.691C>T
Surrounding Variants
1 paper
NM_012326.4
p.L230_R231delFs
c.689_692del4
1 paper
NM_012326.4
p.D224N
c.670G>A
1 paper
NM_012326.4
p.E239A
c.716A>C
1 paper
NM_012326.4
p.E239_H240delFs
c.717_720del4
1 paper
NM_012326.4
p.E241*
c.721G>T
1 paper
NM_012326.4
p.L214L
c.642G>C
1 paper
NM_012326.4
p.S249P
c.745T>C
1 paper
NM_012326.4
p.D211E
c.633C>A
1 paper
NM_012326.4
p.D211E
c.633C>G
1 paper
NM_012326.4
p.V210L
c.628G>T
1 paper
NM_012326.4
p.L209R
c.626T>G
4 papers
NM_012326.4
p.L209L
c.625C>T
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