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

1 paper

NM_014268.4

p.M1I

c.3G>C

Surrounding Variants

1 paper

NM_014268.4

p.M1I

c.3G>A

1 paper

NM_014268.4

p.M1I

c.3G>T

1 paper

NM_014268.4

p.P2_T5del4

c.4_14del12

1 paper

NM_014268.4

p.M1_P2delFs

c.2_5del4

1 paper

NM_014268.4

p.G3E

c.8G>A

1 paper

NM_014268.4

p.L8P

c.23T>C

1 paper

NM_014268.4

p.G12D

c.35G>A

1 paper

NM_014268.4

p.G24E

c.71G>A

1 paper

NM_014268.4

p.F29I

c.85T>A

1 paper

NM_014268.4

p.R30W

c.88C>T

1 paper

NM_014268.4

p.R38C

c.112C>T

1 paper

NM_014268.4

p.S39Y

c.116C>A