Varaico: Literature-Extracted Genetic Variants

EPHA2

548 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 29–201UCSCEphrin receptor ligand binding domain

Ephrin_CRDaa 202–262UCSCEphrin cysteine rich domain

fn3aa 330–429UCSCFibronectin type III domain

fn3aa 437–525UCSCFibronectin type III domain

EphA2_TMaa 537–610UCSCEphrin type-A receptor 2 transmembrane domain

PK_Tyr_Ser-Thraa 613–871UCSCProtein tyrosine and serine/threonine kinase

Gene Aliases

HGNC Name

EPH receptor A2

HGNC Previous Symbol

ECK

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

5 papers

NM_004431.5

p.T605I

c.1814C>T

Surrounding Variants

1 paper

NM_004431.5

p.T605A

c.1813A>G

1 paper

NM_004431.5

p.F604L

c.1812C>G

1 paper

NM_004431.5

p.F604L

c.1812C>A

1 paper

NM_004431.5

p.F604L

c.1810T>C

1 paper

NM_004431.5

p.T606T

c.1818C>T

2 papers

NM_004431.5

p.E607K

c.1819G>A

1 paper

NM_004431.5

p.E607G

c.1820A>G

1 paper

NM_004431.5

p.K603R

c.1808A>G

1 paper

NM_004431.5

p.E607A

c.1820A>C

1 paper

NM_004431.5

p.E607E

c.1821G>A

1 paper

NM_004431.5

p.K603E

c.1807A>G

1 paper

NM_001329090.2

p.L548F

c.1644G>T