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

1–12 of 1828 variants

20 papers

NM_004431.5

p.G391R

c.1171G>C

20 papers

NM_004431.5

p.G391R

c.1171G>A

20 papers

NM_004431.5

p.T511M

c.1532C>T

19 papers

NM_004431.5

p.D942Splc

c.2826-9G>A

16 papers

NM_004431.5

p.A785T

c.2353G>A

15 papers

NM_004431.5

p.R721Q

c.2162G>A

15 papers

NM_004431.5

p.G948W

c.2842G>T

14 papers

NM_004431.5

p.T940I

c.2819C>T

13 papers

NM_004431.5

p.P584L

c.1751C>T

13 papers

NM_004431.5

p.A959T

c.2875G>A

12 papers

NM_004431.5

p.R890C

c.2668C>T

11 papers

NM_004431.5

p.R890C

c.2668C>T