Varaico: Literature-Extracted Genetic Variants

EPHB3

130 papers

RefSeq Summary

Ephrin receptors and their ligands, the ephrins, mediate numerous developmental processes, particularly in the nervous system. Based on their structures and sequence relationships, ephrins are divided...

Pfam Domains

Ephrin_lbdaa 40–212UCSCEphrin receptor ligand binding domain

Ephrin_CRDaa 213–271UCSCEphrin cysteine rich domain

Ephrin_rec_likeaa 277–320UCSCTyrosine-protein kinase ephrin type A/B receptor-like

fn3aa 341–442UCSCFibronectin type III domain

fn3aa 451–541UCSCFibronectin type III domain

EphA2_TMaa 560–630UCSCEphrin type-A receptor 2 transmembrane domain

Gene Aliases

HGNC Name

EPH receptor B3

HGNC Previous Symbol

ETK2

Papers

RefSeq ID

Protein change

DNA change

1–12 of 128 variants

4 papers

NM_004443.4

p.K665R

c.1994A>G

3 papers

NM_004443.4

p.L16R

c.47T>G

2 papers

NM_004443.4

p.A207T

c.619G>A

2 papers

NM_004443.4

p.A217T

c.649G>A

2 papers

NM_004443.4

p.A315T

c.943G>A

2 papers

NM_004443.4

p.R344Q

c.1031G>A

2 papers

NM_004443.4

p.R420H

c.1259G>A

2 papers

NM_004443.4

p.S494S

c.1482C>T

2 papers

NM_004443.4

p.R740W

c.2218C>T

1 paper

NM_004443.4

p.R3_A4delFs

c.9_10delAG

1 paper

NM_004443.4

p.P9_P10del2

c.25_29del6

1 paper

NM_004443.4

p.P12_P14ins1

c.34_42dup9