Varaico: Literature-Extracted Genetic Variants

EPHA3

1,318 papers

RefSeq Summary

This gene belongs to the ephrin receptor subfamily of the protein-tyrosine kinase family. EPH and EPH-related receptors have been implicated in mediating developmental events, particularly in the nerv...

Pfam Domains

Ephrin_lbdaa 30–202UCSCEphrin receptor ligand binding domain

Ephrin_CRDaa 203–259UCSCEphrin cysteine rich domain

Ephrin_rec_likeaa 263–306UCSCTyrosine-protein kinase ephrin type A/B receptor-like

fn3aa 327–426UCSCFibronectin type III domain

fn3aa 435–527UCSCFibronectin type III domain

EphA2_TMaa 543–618UCSCEphrin type-A receptor 2 transmembrane domain

Gene Aliases

HGNC Name

EPH receptor A3

HGNC Previous Symbols

ETK; ETK1; TYRO4

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

4 papers

NM_005233.6

p.L858R

c.2573T>G

Surrounding Variants

2 papers

NM_005233.6

p.L858Q

c.2573T>A

1 paper

NM_005233.6

p.L856L

c.2568G>T

1 paper

NM_005233.6

p.C860R

c.2578T>C

1 paper

NM_005233.6

p.W861R

c.2581T>A

2 papers

NM_005233.6

p.W861*

c.2582G>A

2 papers

NM_005233.6

p.W861*

c.2583G>A

1 paper

NM_005233.6

p.Q862*

c.2584C>T

1 paper

NM_005233.6

p.Y854F

c.2561A>T

1 paper

NM_005233.6

p.N866K

c.2598C>A

1 paper

NM_005233.6

p.N866K

c.2598C>G

1 paper

NM_005233.6

p.R868I

c.2603G>T

1 paper

NM_005233.6

p.M847I

c.2541G>A