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

5 papers

NM_014268.4

p.Q152*

c.454C>T

Surrounding Variants

1 paper

NM_014268.4

p.W153L

c.458G>T

1 paper

NM_014268.4

p.K155*

c.463A>T

1 paper

NM_014268.4

p.K155N

c.465G>T

2 papers

NM_001256420.2

p.D106G

c.317A>G

NM_014268.4

p.D159G

c.476A>G

5 papers

NM_014268.4

p.R143C

c.427C>T

1 paper

NM_014268.4

p.D163insFs

c.487_488insT

1 paper

NM_014268.4

p.R173*

c.517C>T

4 papers

NM_014268.4

p.R173Q

c.518G>A

1 paper

NM_014268.4

p.A178E

c.533C>A

1 paper

NM_014268.4

p.D183H

c.547G>C

1 paper

NM_014268.4

p.I188L

c.562A>C

1 paper

NM_014268.4

p.F189Y

c.566T>A