Varaico: Literature-Extracted Genetic Variants

EPHA4

232 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 31–204UCSCEphrin receptor ligand binding domain

Ephrin_CRDaa 205–262UCSCEphrin cysteine rich domain

fn3aa 328–431UCSCFibronectin type III domain

fn3aa 439–531UCSCFibronectin type III domain

EphA2_TMaa 549–618UCSCEphrin type-A receptor 2 transmembrane domain

PK_Tyr_Ser-Thraa 621–878UCSCProtein tyrosine and serine/threonine kinase

Gene Aliases

HGNC Name

EPH receptor A4

HGNC Previous Symbol

TYRO1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_004438.5

p.S23F

c.68C>T

Surrounding Variants

1 paper

NM_004438.5

p.P27_A28ins6

c.79_83ins18

1 paper

NM_004438.5

p.V31Splc

c.91+1G>T

1 paper

NM_004438.5

p.V31Splc

c.91+1G>A

1 paper

NM_004438.5

p.L9_F10ins2

c.27_28ins6

1 paper

NM_004438.5

p.A2S

c.4G>T

1 paper

NM_004438.5

p.A2P

c.4G>C

1 paper

NM_004438.5

p.A2T

c.4G>A

1 paper

NM_004438.5

p.L33*

c.98T>G

1 paper

NM_004438.5

p.L34V

c.100T>G

1 paper

NM_004438.5

p.R37K

c.110G>A

1 paper

NM_004438.5

p.S38T

c.112T>A

1 paper

NM_004438.5

p.Q40*

c.118C>T