Varaico: Literature-Extracted Genetic Variants

Gene:MAPRE2
Variant:p.L81L

MAPRE2

159 papers

RefSeq Summary

The protein encoded by this gene shares significant homology to the adenomatous polyposis coli (APC) protein-binding EB1 gene family. This protein is a microtubule-associated protein that is necessary...

Pfam Domains

CHaa 57–163UCSCCalponin homology (CH) domain
CHaa 57–163UCSCCalponin homology (CH) domain
EB1aa 261–299UCSCEB1-like C-terminal motif
EB1aa 261–299UCSCEB1-like C-terminal motif

Gene Aliases

HGNC Name

microtubule associated protein RP/EB family member 2

HGNC Alias Symbols

EB1; EB2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_014268.4
p.L81L
c.243T>A
Surrounding Variants
1 paper
NM_014268.4
p.Q80L
c.239A>T
1 paper
NM_014268.4
p.V78V
c.234G>A
1 paper
NM_014268.4
p.S72Y
c.215C>A
1 paper
NM_014268.4
p.D69N
c.205G>A
7 papers
NM_014268.4
p.N68S
c.203A>G
1 paper
NM_014268.4
p.I63I
c.189C>A
1 paper
NM_014268.4
p.R60T
c.179G>C
1 paper
NM_014268.4
p.M58V
c.172A>G
1 paper
NM_014268.4
p.S50Y
c.149C>A
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