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

1 paper

NM_005233.6

p.M847I

c.2541G>A

Surrounding Variants

1 paper

NM_005233.6

p.M847I

c.2541G>C

1 paper

NM_005233.6

p.M847I

c.2541G>T

1 paper

NM_005233.6

p.M847K

c.2540T>A

4 papers

NM_005233.6

p.P846T

c.2536C>A

5 papers

NM_005233.6

p.P845H

c.2534C>A

1 paper

NM_005233.6

p.P845fs

c.2533_2534fs

1 paper

NM_005233.6

p.P844T

c.2530C>A

1 paper

NM_005233.6

p.P844S

c.2530C>T

2 papers

NM_005233.6

p.L843M

c.2527C>A

1 paper

NM_005233.6

p.R842G

c.2524C>G

2 papers

NM_005233.6

p.Y841F

c.2522A>T

1 paper

NM_005233.6

p.Y854F

c.2561A>T