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

1–12 of 74 variants

7 papers

NM_014268.4

p.N68S

c.203A>G

5 papers

NM_014268.4

p.R143C

c.427C>T

5 papers

NM_014268.4

p.Q152*

c.454C>T

4 papers

NM_014268.4

p.Y87C

c.260A>G

4 papers

NM_014268.4

p.R173Q

c.518G>A

2 papers

NM_014268.4

p.Q89R

c.266A>G

1 paper

NM_014268.4

p.M1_P2delFs

c.2_5del4

1 paper

NM_014268.4

p.M1I

c.3G>A

1 paper

NM_014268.4

p.M1I

c.3G>C

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.G3E

c.8G>A