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.K76R

c.227A>G

Surrounding Variants

1 paper

NM_017449.5

p.K76T

c.227A>C

1 paper

NM_017449.5

p.T75_K76insFs

c.225_226insC

1 paper

NM_017449.5

p.R74P

c.221G>C

1 paper

NM_017449.5

p.I78insFs

c.234dupC

1 paper

NM_017449.5

p.R74R

c.220C>A

2 papers

NM_017449.5

p.R74W

c.220C>T

1 paper

NM_017449.5

p.R79R

c.235C>A

3 papers

NM_017449.5

p.R79W

c.235C>T

1 paper

NM_017449.5

p.R79Q

c.236G>A

2 papers

NM_017449.5

p.L73P

c.218T>C

1 paper

NM_017449.5

p.R80S

c.238C>A

1 paper

NM_017449.5

p.R80fs

c.238_239fs