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.R199S

c.595C>A

Surrounding Variants

3 papers

NM_017449.5

p.R199H

c.596G>A

1 paper

NM_017449.5

p.R199P

c.596G>C

2 papers

NM_017449.5

p.I200F

c.598A>T

1 paper

NM_017449.5

p.I200N

c.599T>A

1 paper

NM_017449.5

p.I201V

c.601A>G

2 papers

NM_017449.5

p.I201N

c.602T>A

2 papers

NM_017449.5

p.R195H

c.584G>A

1 paper

NM_017449.5

p.R195C

c.583C>T

1 paper

NM_017449.5

p.N203S

c.608A>G

1 paper

NM_017449.5

p.G204R

c.610G>C

1 paper

NM_017449.5

p.F193L

c.579C>A

1 paper

NM_017449.5

p.F193L

c.579C>G