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.L62R

c.185T>G

Surrounding Variants

1 paper

NM_004445.6

p.L62insFs

c.186dupG

1 paper

NM_004445.6

p.D64N

c.190G>A

1 paper

NM_004445.6

p.D64V

c.191A>T

1 paper

NM_004445.6

p.Q65E

c.193C>G

1 paper

NM_004445.6

p.V59V

c.177G>A

1 paper

NM_004445.6

p.R66*

c.196C>T

2 papers

NM_004445.6

p.R67C

c.199C>T

2 papers

NM_004445.6

p.R67H

c.200G>A

1 paper

NM_004445.6

p.L68V

c.202C>G

1 paper

NM_004445.6

p.W56S

c.167G>C

1 paper

NM_004445.6

p.R70W

c.208C>T

1 paper

NM_004445.6

p.R70Q

c.209G>A