Varaico: Literature-Extracted Genetic Variants

EPHB1

835 papers

RefSeq Summary

Ephrin receptors and their ligands, the ephrins, mediate numerous developmental processes, particularly in the nervous system. Based on their structures and sequence relationships, ephrins are divided...

Pfam Domains

Ephrin_lbdaa 20–196UCSCEphrin receptor ligand binding domain

Ephrin_CRDaa 197–255UCSCEphrin cysteine rich domain

fn3aa 324–424UCSCFibronectin type III domain

fn3aa 432–523UCSCFibronectin type III domain

EphA2_TMaa 542–616UCSCEphrin type-A receptor 2 transmembrane domain

PK_Tyr_Ser-Thraa 619–878UCSCProtein tyrosine and serine/threonine kinase

Gene Aliases

HGNC Name

EPH receptor B1

HGNC Previous Symbol

EPHT2

Papers

RefSeq ID

Protein change

DNA change

1–12 of 723 variants

12 papers

NM_004441.5

p.V562I

c.1684G>A

9 papers

NM_004441.5

p.T981M

c.2942C>T

8 papers

NM_004441.5

p.V322I

c.964G>A

7 papers

NM_004441.5

p.R90C

c.268C>T

7 papers

NM_004441.5

p.R905C

c.2713C>T

6 papers

NM_004441.5

p.M1I

c.3G>A

6 papers

NM_004441.5

p.T911M

c.2732C>T

6 papers

NM_004441.5

p.A922T

c.2764G>A

5 papers

NM_004441.5

p.R84H

c.251G>A

5 papers

NM_004441.5

p.R327C

c.979C>T

5 papers

NM_004441.5

p.E605K

c.1813G>A

5 papers

NM_004441.5

p.S690N

c.2069G>A