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

1 paper

NM_004431.5

p.I893T

c.2678T>C

Surrounding Variants

1 paper

NM_004431.5

p.S892S

c.2676T>C

2 papers

NM_001329090.2

p.R840Q

c.2519G>A

NM_004431.5

p.R894Q

c.2681G>A

1 paper

NM_004431.5

p.S892F

c.2675C>T

1 paper

NM_004431.5

p.S892C

c.2675C>G

1 paper

NM_004431.5

p.S892A

c.2674T>G

1 paper

NM_004431.5

p.S892P

c.2674T>C

1 paper

NM_004431.5

p.L895P

c.2684T>C

2 papers

NM_004431.5

p.V891M

c.2671G>A

1 paper

NM_004431.5

p.P896S

c.2686C>T

1 paper

NM_004431.5

p.R890R

c.2670C>T

1 paper

NM_004431.5

p.R890H

c.2669G>A

1 paper

NM_004431.5

p.P896L

c.2687C>T