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.Y306*

c.918C>G

Surrounding Variants

1 paper

NM_004445.6

p.G305_Y306del1

c.915_917delATA

1 paper

NM_004445.6

p.G298G

c.894G>A

1 paper

NM_004445.6

p.V297I

c.889G>A

1 paper

NM_004445.6

p.A317S

c.949G>T

1 paper

NM_004445.6

p.W293R

c.877T>A

1 paper

NM_004445.6

p.G291A

c.872G>C

1 paper

NM_004445.6

p.E290*

c.868G>T

1 paper

NM_004445.6

p.R284fs

c.850_851fs

1 paper

NM_004445.6

p.R284delFs

c.851delG

1 paper

NM_004445.6

p.P282H

c.845C>A

1 paper

NM_004445.6

p.P282R

c.845C>G

1 paper

NM_004445.6

p.S281N

c.842G>A