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.I802T

c.2405T>C

Surrounding Variants

1 paper

NM_020526.5

p.T796_G797Splc

c.2389-4G>A

1 paper

NM_020526.5

p.D820A

c.2459A>C

1 paper

NM_020526.5

p.V821L

c.2461G>C

1 paper

NM_020526.5

p.V821L

c.2461G>T

1 paper

NM_020526.5

p.V826M

c.2476G>A

1 paper

NM_020526.5

p.G835W

c.2503G>T

2 papers

NM_020526.5

p.R837W

c.2509C>T

1 paper

NM_020526.5

p.N841K

c.2523C>A

1 paper

NM_020526.5

p.N841K

c.2523C>G

1 paper

NM_020526.5

p.T843A

c.2527A>G

1 paper

NM_020526.5

p.R845Q

c.2534G>A

1 paper

NM_020526.5

p.D846_V847Splc

c.2539-1G>A