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

1–12 of 392 variants

8 papers

NM_004445.6

p.Q632Q

c.1896G>A

7 papers

NM_004445.6

p.S171_S172del1

c.513_515delCTC

6 papers

NM_004445.6

p.S173ins1

c.518_519insCTC

5 papers

NM_004445.6

p.G122S

c.364G>A

4 papers

NM_004445.6

p.S172_S174ins1

c.516_521dup6

4 papers

NM_004445.6

p.S177del1

c.529_530delTCT

4 papers

NM_004445.6

p.A219V

c.656C>T

4 papers

NM_004445.6

p.G369Splc

c.1106-1G>C

4 papers

NM_004445.6

p.R778L

c.2333G>T

3 papers

NM_004445.6

p.E42K

c.124G>A

3 papers

NM_004445.6

p.G54W

c.160G>T

3 papers

NM_004445.6

p.G99R

c.295G>A