Varaico: Literature-Extracted Genetic Variants

EPHA8

176 papers

RefSeq Summary

This gene encodes a member of the ephrin receptor subfamily of the protein-tyrosine kinase family. EPH and EPH-related receptors have been implicated in mediating developmental events, particularly in...

Pfam Domains

Ephrin_lbdaa 32–204UCSCEphrin receptor ligand binding domain

Ephrin_CRDaa 205–262UCSCEphrin cysteine rich domain

fn3aa 328–429UCSCFibronectin type III domain

fn3aa 438–530UCSCFibronectin type III domain

EphA2_TMaa 543–632UCSCEphrin type-A receptor 2 transmembrane domain

PK_Tyr_Ser-Thraa 635–892UCSCProtein tyrosine and serine/threonine kinase

Gene Aliases

HGNC Name

EPH receptor A8

HGNC Previous Symbol

EEK

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_020526.5

p.K202N

c.606G>T

Surrounding Variants

1 paper

NM_020526.5

p.K202K

c.606G>A

1 paper

NM_020526.5

p.K202N

c.606G>C

2 papers

NM_020526.5

p.R198C

c.592C>T

1 paper

NM_020526.5

p.L197V

c.589C>G

1 paper

NM_020526.5

p.S196F

c.587C>T

1 paper

NM_020526.5

p.R209H

c.626G>A

1 paper

NM_020526.5

p.A193T

c.577G>A

1 paper

NM_020526.5

p.V218G

c.653T>G

1 paper

NM_020526.5

p.A184A

c.552C>T

1 paper

NM_020526.5

p.A221V

c.662C>T

1 paper

NM_020526.5

p.A184T

c.550G>A

1 paper

NM_020526.5

p.D222N

c.664G>A