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.E126A

c.377A>C

Surrounding Variants

1 paper

NM_004445.6

p.E126K

c.376G>A

2 papers

NM_004445.6

p.R125Q

c.374G>A

1 paper

NM_004445.6

p.C124S

c.371G>C

1 paper

NM_004445.6

p.C124S

c.370T>A

1 paper

NM_004445.6

p.C124G

c.370T>G

1 paper

NM_004445.6

p.T123A

c.367A>G

5 papers

NM_004445.6

p.G122S

c.364G>A

1 paper

NM_004445.6

p.G121C

c.361G>T

1 paper

NM_004445.6

p.Y132H

c.394T>C

1 paper

NM_004445.6

p.Y132*

c.396C>A

1 paper

NM_004445.6

p.Y132*

c.396C>G

1 paper

NM_004445.6

p.R133C

c.397C>T