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.G183R

c.547G>A

Surrounding Variants

1 paper

NM_004445.6

p.P184P

c.552C>A

1 paper

NM_004445.6

p.W180G

c.538T>G

1 paper

NM_004445.6

p.G188R

c.562G>A

1 paper

NM_004445.6

p.G188R

c.562G>C

1 paper

NM_004445.6

p.G188W

c.562G>T

4 papers

NM_004445.6

p.S177del1

c.529_530delTCT

1 paper

NM_004445.6

p.Q189H

c.567G>C

1 paper

NM_004445.6

p.R190P

c.569G>C

2 papers

NM_004445.6

p.S176del1

c.526_527delTCC

2 papers

NM_004445.6

p.A191_K198delFs

c.573_594del22

1 paper

NM_004445.6

p.L193M

c.577C>A

2 papers

NM_004445.6

p.S172S

c.516C>T