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

4 papers

NM_020526.5

p.N432D

c.1294A>G

Surrounding Variants

2 papers

NM_020526.5

p.T435M

c.1304C>T

1 paper

NM_020526.5

p.T435T

c.1305G>A

1 paper

NM_020526.5

p.Q437H

c.1311G>C

1 paper

NM_020526.5

p.Q437H

c.1311G>T

1 paper

NM_001006943.3

p.R441Q

c.1322G>A

1 paper

NM_020526.5

p.L421Q

c.1262T>A

1 paper

NM_020526.5

p.D420_L421del2

c.1258_1262del6

2 papers

NM_020526.5

p.S419F

c.1256C>T

1 paper

NM_020526.5

p.V415I

c.1243G>A

1 paper

NM_020526.5

p.A439Splc

c.1315+54T>C

1 paper

NM_020526.5

p.N401fs

c.1201_1202fs

1 paper

NM_020526.5

p.N401delFs

c.1202_1203delAC