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

1 paper

NM_004438.5

p.K625K

c.1875A>G

Surrounding Variants

1 paper

NM_004438.5

p.A618V

c.1853C>T

1 paper

NM_004438.5

p.A618T

c.1852G>A

1 paper

NM_004438.5

p.R610Q

c.1829G>A

1 paper

NM_004438.5

p.V609L

c.1825G>T

1 paper

NM_004438.5

p.V609L

c.1825G>C

1 paper

NM_004438.5

p.P605fs

c.1813_1814fs

1 paper

NM_004438.5

p.P605S

c.1813C>T

4 papers

NM_004438.5

p.Y602F

c.1805A>T

1 paper

NM_004438.5

p.D598Y

c.1792G>T

1 paper

NM_004438.5

p.D598N

c.1792G>A

4 papers

NM_004438.5

p.Y596F

c.1787A>T

1 paper

NM_004438.5

p.E634K

c.1900G>A