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.S168A

c.502T>G

Surrounding Variants

1 paper

NM_004445.6

p.S168S

c.504C>T

1 paper

NM_004445.6

p.S166F

c.497C>T

2 papers

NM_004445.6

p.S170T

c.508T>A

1 paper

NM_004445.6

p.S166P

c.496T>C

1 paper

NM_004445.6

p.S170F

c.509C>T

1 paper

NM_004445.6

p.P165L

c.494C>T

1 paper

NM_004445.6

p.P165ins1

c.494_495insATC

6 papers

NM_004445.6

p.S173ins1

c.518_519insCTC

4 papers

NM_004445.6

p.S172_S174ins1

c.516_521dup6

7 papers

NM_004445.6

p.S171_S172del1

c.513_515delCTC

1 paper

NM_004445.6

p.S170_S173del0

c.510_518del9

1 paper

NM_004445.6

p.P165del1

c.493_495delCCC