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.I251_F260delFs

c.752_780del29

Surrounding Variants

2 papers

NM_017449.5

p.I251L

c.751A>C

1 paper

NM_017449.5

p.P250P

c.750C>G

1 paper

NM_017449.5

p.P250L

c.749C>T

1 paper

NM_017449.5

p.G252W

c.754G>T

1 paper

NM_017449.5

p.G252A

c.755G>C

1 paper

NM_017449.5

p.V249M

c.745G>A

2 papers

NM_017449.5

p.V249fs

c.745_746fs

1 paper

NM_017449.5

p.V249_I251delFs

c.746_753del8

1 paper

NM_017449.5

p.L248V

c.742C>G

1 paper

NM_017449.5

p.L248L

c.742C>T

1 paper

NM_017449.5

p.C254R

c.760T>C

1 paper

NM_017449.5

p.W247*

c.740G>A