Varaico: Literature-Extracted Genetic Variants

Gene:MAPRE3
Variant:p.E94fs

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
5 papers
NM_012326.4
p.E94fs
c.280_281fs
Surrounding Variants
3 papers
NM_012326.4
p.E94_K95delFs
c.280_283del4
1 paper
NM_012326.4
p.I91delFs
c.271delA
1 paper
NM_012326.4
p.K98insFs
c.292_293insA
1 paper
NM_012326.4
p.F101_Q102insFs
c.303_304insT
1 paper
NM_012326.4
p.D116H
c.346G>C
1 paper
NM_012326.4
p.D120N
c.358G>A
1 paper
NM_012326.4
p.K122_D123delFs
c.364_368del5
1 paper
NM_012326.4
p.N125Y
c.373A>T
1 paper
NM_012326.4
p.L152V
c.454C>G
1 paper
NM_012326.4
p.L152F
c.454C>T
1 paper
NM_012326.4
p.V157I
c.469G>A
1 paper
NM_012326.4
p.V157F
c.469G>T
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