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.S218A

c.652T>G

Surrounding Variants

1 paper

NM_017449.5

p.L219M

c.655C>A

1 paper

NM_017449.5

p.L219L

c.655C>T

1 paper

NM_017449.5

p.L219L

c.657G>A

1 paper

NM_017449.5

p.S216G

c.646A>G

1 paper

NM_017449.5

p.V220M

c.658G>A

1 paper

NM_017449.5

p.A214V

c.641C>T

2 papers

NM_017449.5

p.A222V

c.665C>T

3 papers

NM_017449.5

p.R223W

c.667C>T

3 papers

NM_017449.5

p.R223Q

c.668G>A

1 paper

NM_017449.5

p.S212S

c.636G>A

1 paper

NM_017449.5

p.G224_S225insC

c.670_674ins3

1 paper

NM_017449.5

p.S212P

c.634T>C