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.S201N

c.602G>A

Surrounding Variants

1 paper

NM_004445.6

p.K198Q

c.592A>C

1 paper

NM_004445.6

p.V197G

c.590T>G

1 paper

NM_004445.6

p.N196D

c.586A>G

1 paper

NM_004445.6

p.L195M

c.583C>A

1 paper

NM_004445.6

p.G209_F210insT

c.625_629ins3

1 paper

NM_004445.6

p.L193M

c.577C>A

1 paper

NM_004445.6

p.Y211delFs

c.633delC

2 papers

NM_004445.6

p.A191_K198delFs

c.573_594del22

1 paper

NM_004445.6

p.Y211_V212insFs

c.633_634insA

1 paper

NM_004445.6

p.R190P

c.569G>C

1 paper

NM_004445.6

p.Q189H

c.567G>C

1 paper

NM_004445.6

p.F214delFs

c.642delC