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

3 papers

NM_004445.6

p.G54W

c.160G>T

Surrounding Variants

1 paper

NM_004445.6

p.G54R

c.160G>A

1 paper

NM_004445.6

p.G54R

c.160G>C

1 paper

NM_004445.6

p.P53R

c.158C>G

2 papers

NM_004445.6

p.P53L

c.158C>T

1 paper

NM_004445.6

p.P53fs

c.157_158fs

1 paper

NM_004445.6

p.G55R

c.163G>A

1 paper

NM_004445.6

p.G55R

c.163G>C

2 papers

NM_004445.6

p.P52P

c.156A>G

2 papers

NM_004445.6

p.P52P

c.156A>T

1 paper

NM_004445.6

p.P52L

c.155C>T

1 paper

NM_004445.6

p.P52S

c.154C>T

1 paper

NM_004445.6

p.W48C

c.144G>C