Varaico: Literature-Extracted Genetic Variants

EPHB6

508 papers

RefSeq Summary

This gene encodes a member of a family of transmembrane proteins that function as receptors for ephrin-B family proteins. Unlike other members of this family, the encoded protein does not contain a fu...

Pfam Domains

Ephrin_lbdaa 34–233UCSCEphrin receptor ligand binding domain

Ephrin_CRDaa 234–302UCSCEphrin cysteine rich domain

Ephrin_rec_likeaa 305–347UCSCTyrosine-protein kinase ephrin type A/B receptor-like

fn3aa 490–579UCSCFibronectin type III domain

EphA2_TMaa 597–668UCSCEphrin type-A receptor 2 transmembrane domain

PK_Tyr_Ser-Thraa 671–916UCSCProtein tyrosine and serine/threonine kinase

Gene Aliases

HGNC Name

EPH receptor B6

HGNC Alias Symbol

HEP

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_004445.6

p.V224F

c.670G>T

Surrounding Variants

2 papers

NM_004445.6

p.V224I

c.670G>A

1 paper

NM_004445.6

p.V224delFs

c.671delT

1 paper

NM_004445.6

p.L223L

c.667C>T

1 paper

NM_004445.6

p.A225V

c.674C>T

1 paper

NM_004445.6

p.A222V

c.665C>T

1 paper

NM_004445.6

p.A219A

c.657C>A

4 papers

NM_004445.6

p.A219V

c.656C>T

1 paper

NM_004445.6

p.A219T

c.655G>A

1 paper

NM_004445.6

p.A219delins

c.655_656delinsAA

2 papers

NM_004445.6

p.F229L

c.685T>C

2 papers

NM_004445.6

p.F229L

c.687C>A

2 papers

NM_004445.6

p.F229L

c.687C>G