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.S146R

c.438C>G

Surrounding Variants

1 paper

NM_017449.5

p.S146R

c.438C>A

1 paper

NM_017449.5

p.S146delFs

c.438delC

1 paper

NM_017449.5

p.S146R

c.436A>C

1 paper

NM_017449.5

p.S148P

c.442T>C

1 paper

NM_017449.5

p.Q149_V150insFs

c.447_448ins4

4 papers

NM_017449.5

p.D144N

c.430G>A

1 paper

NM_017449.5

p.A143V

c.428C>T

1 paper

NM_017449.5

p.A142V

c.425C>T

1 paper

NM_017449.5

p.A142S

c.424G>T

1 paper

NM_017449.5

p.A142_A143delFs

c.424_427del4

1 paper

NM_017449.5

p.T140S

c.419C>G

1 paper

NM_017449.5

p.G153S

c.457G>A