Varaico: Literature-Extracted Genetic Variants

EPHB2

2,780 papers

RefSeq Summary

This gene encodes a member of the Eph receptor family of receptor tyrosine kinase transmembrane glycoproteins. These receptors are composed of an N-terminal glycosylated ligand-binding domain, a trans...

Pfam Domains

Ephrin_lbdaa 21–197UCSCEphrin receptor ligand binding domain

Ephrin_CRDaa 198–256UCSCEphrin cysteine rich domain

Ephrin_rec_likeaa 260–304UCSCTyrosine-protein kinase ephrin type A/B receptor-like

fn3aa 326–427UCSCFibronectin type III domain

fn3aa 434–526UCSCFibronectin type III domain

EphA2_TMaa 544–618UCSCEphrin type-A receptor 2 transmembrane domain

Gene Aliases

HGNC Name

EPH receptor B2

HGNC Previous Symbols

DRT; ERK; EPHT3

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_017449.5

p.S47Fs

c.139delinsTTFs

Surrounding Variants

1 paper

NM_017449.5

p.S47N

c.140G>A

1 paper

NM_017449.5

p.G48C

c.142G>T

1 paper

NM_017449.5

p.G48D

c.143G>A

1 paper

NM_017449.5

p.G48A

c.143G>C

1 paper

NM_017449.5

p.E45A

c.134A>C

11 papers

NM_017449.5

p.Y49F

c.146A>T

1 paper

NM_017449.5

p.E44K

c.130G>A

1 paper

NM_017449.5

p.E44Q

c.130G>C

1 paper

NM_017449.5

p.W43C

c.129G>C

1 paper

NM_017449.5

p.W43C

c.129G>T

2 papers

NM_017449.5

p.W43*

c.128G>A

1 paper

NM_017449.5

p.W43L

c.128G>T