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.D244E

c.732C>A

Surrounding Variants

3 papers

NM_017449.5

p.G245S

c.733G>A

1 paper

NM_017449.5

p.G245R

c.733G>C

1 paper

NM_017449.5

p.G245C

c.733G>T

2 papers

NM_017449.5

p.G243G

c.729G>A

1 paper

NM_017449.5

p.E246K

c.736G>A

1 paper

NM_017449.5

p.G243A

c.728G>C

1 paper

NM_017449.5

p.G243W

c.727G>T

1 paper

NM_017449.5

p.W247G

c.739T>G

1 paper

NM_017449.5

p.W247insFs

c.740dupG

1 paper

NM_017449.5

p.W247*

c.740G>A

1 paper

NM_017449.5

p.C241*

c.723T>A

1 paper

NM_017449.5

p.L248V

c.742C>G