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.W130*

c.389G>A

Surrounding Variants

1 paper

NM_017449.5

p.W130C

c.390G>C

1 paper

NM_017449.5

p.W130C

c.390G>T

1 paper

NM_017449.5

p.N129N

c.387C>T

1 paper

NM_017449.5

p.M131I

c.393G>A

1 paper

NM_017449.5

p.P128R

c.383C>G

1 paper

NM_017449.5

p.P128S

c.382C>T

1 paper

NM_017449.5

p.N133S

c.398A>G

1 paper

NM_017449.5

p.F127Y

c.380T>A

1 paper

NM_017449.5

p.P128delFs

c.384delC

1 paper

NM_017449.5

p.P128delFs

c.382_383delCC

1 paper

NM_017449.5

p.F127_P128ins1

c.381_382insATC

1 paper

NM_017449.5

p.K125K

c.375G>A