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

4 papers

NM_004445.6

p.R778L

c.2333G>T

Surrounding Variants

1 paper

NM_004445.6

p.R778Q

c.2333G>A

1 paper

NM_004445.6

p.Q777*

c.2329C>T

1 paper

NM_004445.6

p.F768insFs

c.2304dupC

1 paper

NM_004445.6

p.A791V

c.2372C>T

1 paper

NM_004445.6

p.G816A

c.2447G>C

1 paper

NM_004445.6

p.P819insFs

c.2456_2457insA

1 paper

NM_004445.6

p.S742N

c.2225G>A

1 paper

NM_004445.6

p.Q728*

c.2182C>T

1 paper

NM_004445.6

p.G725D

c.2174G>A

1 paper

NM_004445.6

p.G725S

c.2173G>A

1 paper

NM_004445.6

p.G719V

c.2156G>T

1 paper

NM_004445.6

p.T716I

c.2147C>T