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.T40delFs

c.118_119delAC

Surrounding Variants

2 papers

NM_004445.6

p.D38V

c.113A>T

1 paper

NM_004445.6

p.G41R

c.121G>A

2 papers

NM_004445.6

p.G41R

c.121G>C

1 paper

NM_004445.6

p.G41E

c.122G>A

1 paper

NM_004445.6

p.G41insFs

c.122_123ins5

3 papers

NM_004445.6

p.E42K

c.124G>A

1 paper

NM_004445.6

p.T43S

c.127A>T

1 paper

NM_004445.6

p.T43R

c.128C>G

1 paper

NM_004445.6

p.V35E

c.104T>A

1 paper

NM_004445.6

p.S44F

c.131C>T

1 paper

NM_004445.6

p.E34Splc

c.101-2A>G

1 paper

NM_004445.6

p.E45K

c.133G>A