Varaico: Literature-Extracted Genetic Variants

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

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

2 papers

NM_014268.4

p.Q89R

c.266A>G

Surrounding Variants

4 papers

NM_014268.4

p.Y87C

c.260A>G

1 paper

NM_014268.4

p.A85_A86del1

c.255_257delGGC

1 paper

NM_014268.4

p.G84Splc

c.251-2A>G

1 paper

NM_014268.4

p.S100C

c.298A>T

1 paper

NM_014268.4

p.I115F

c.343A>T

1 paper

NM_014268.4

p.F118S

c.353T>C

1 paper

NM_014268.4

p.A123A

c.369A>T

1 paper

NM_001143827.3

p.R115Q

c.344G>A

1 paper

NM_014268.4

p.M128K

c.383T>A

1 paper

NM_014268.4

p.D131_K132insFs

c.393_394insG

1 paper

NM_014268.4

p.K132E

c.394A>G

5 papers

NM_014268.4

p.R143C

c.427C>T