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

1–12 of 1168 variants

14 papers

NM_005233.6

p.W924R

c.2770T>A

14 papers

NM_005233.6

p.W924R

c.2770T>C

12 papers

NM_005233.6

p.D806N

c.2416G>A

10 papers

NM_005233.6

p.G766E

c.2297G>A

10 papers

NM_005233.6

p.R914H

c.2741G>A

9 papers

NM_005233.6

p.R136*

c.406C>T

8 papers

NM_005233.6

p.K761N

c.2283G>C

8 papers

NM_005233.6

p.K761N

c.2283G>T

7 papers

NM_005233.6

p.Q4H

c.12G>C

7 papers

NM_005233.6

p.R136Q

c.407G>A

7 papers

NM_005233.6

p.P173L

c.518C>T

6 papers

NM_005233.6

p.T37K

c.110C>A