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

2 papers

NM_005233.6

p.Q184L

c.551A>T

Surrounding Variants

1 paper

NM_005233.6

p.D185del1

c.553_554delGAT

1 paper

NM_005233.6

p.Q184K

c.550C>A

1 paper

NM_005233.6

p.Q184*

c.550C>T

1 paper

NM_005233.6

p.D185N

c.553G>A

2 papers

NM_005233.6

p.F183L

c.549T>A

2 papers

NM_005233.6

p.F183L

c.549T>G

1 paper

NM_005233.6

p.D185A

c.554A>C

2 papers

NM_005233.6

p.F183L

c.547T>C

1 paper

NM_005233.6

p.A182T

c.544G>A

2 papers

NM_005233.6

p.A182P

c.544G>C

2 papers

NM_005233.6

p.G187S

c.559G>A

5 papers

NM_005233.6

p.G187R

c.559G>C