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

2 papers

NM_004445.6

p.Q86K

c.256C>A

Surrounding Variants

1 paper

NM_004445.6

p.G85G

c.255G>A

1 paper

NM_004445.6

p.G85R

c.253G>A

1 paper

NM_004445.6

p.N88_W89del1

c.263_265delATT

1 paper

NM_004445.6

p.T84delFs

c.252delC

1 paper

NM_004445.6

p.W89R

c.265T>A

1 paper

NM_004445.6

p.P82S

c.244C>T

1 paper

NM_004445.6

p.P81R

c.242C>G

1 paper

NM_004445.6

p.P81L

c.242C>T

1 paper

NM_004445.6

p.Q91K

c.271C>A

2 papers

NM_004445.6

p.A80G

c.239C>G

1 paper

NM_004445.6

p.A80V

c.239C>T

2 papers

NM_004445.6

p.A80T

c.238G>A