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

2 papers

NM_017449.5

p.T322A

c.964A>G

Surrounding Variants

1 paper

NM_017449.5

p.T322insFs

c.965_966insC

1 paper

NM_017449.5

p.T322S

c.964A>T

1 paper

NM_017449.5

p.C321Y

c.962G>A

1 paper

NM_017449.5

p.C321F

c.962G>T

1 paper

NM_017449.5

p.P320P

c.960C>G

1 paper

NM_017449.5

p.T323Splc

c.967+1G>T

1 paper

NM_017449.5

p.P320H

c.959C>A

1 paper

NM_017449.5

p.P320L

c.959C>T

2 papers

NM_017449.5

p.D318insFs

c.952_953insA

1 paper

NM_017449.5

p.L317insFs

c.949_950insA

1 paper

NM_017449.5

p.L317_D318delFs

c.950_953del4

1 paper

NM_017449.5

p.P316L

c.947C>T