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.D139N

c.415G>A

Surrounding Variants

1 paper

NM_004445.6

p.D139H

c.415G>C

1 paper

NM_004445.6

p.Q134H

c.402G>C

1 paper

NM_004445.6

p.Q134H

c.402G>T

1 paper

NM_004445.6

p.Q134fs

c.400_401fs

1 paper

NM_004445.6

p.R133_Q134delins

c.399_401delinsCCA

1 paper

NM_004445.6

p.R133insFs

c.399dupT

1 paper

NM_004445.6

p.R133C

c.397C>T

1 paper

NM_004445.6

p.Y132*

c.396C>A

1 paper

NM_004445.6

p.Y132*

c.396C>G

1 paper

NM_004445.6

p.Y132H

c.394T>C

2 papers

NM_004445.6

p.K150N

c.450A>T

1 paper

NM_004445.6

p.E126A

c.377A>C