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.Y779F

c.2336A>T

Surrounding Variants

1 paper

NM_005233.6

p.T780_T781insA

c.2338_2342ins3

1 paper

NM_005233.6

p.A778V

c.2333C>T

1 paper

NM_005233.6

p.A778P

c.2332G>C

3 papers

NM_005233.6

p.A777G

c.2330C>G

1 paper

NM_005233.6

p.E776K

c.2326G>A

1 paper

NM_005233.6

p.P775Q

c.2324C>A

1 paper

NM_005233.6

p.P775insFs

c.2324_2325ins8

1 paper

NM_005233.6

p.P775insFs

c.2324_2325ins11

1 paper

NM_005233.6

p.P775A

c.2323C>G

1 paper

NM_005233.6

p.P775S

c.2323C>T

1 paper

NM_005233.6

p.D774G

c.2321A>G

1 paper

NM_005233.6

p.E772Q

c.2314G>C