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

1–12 of 211 variants

7 papers

NM_020526.5

p.P607H

c.1820C>A

7 papers

NM_020526.5

p.R884H

c.2651G>A

6 papers

NM_020526.5

p.G45S

c.133G>A

4 papers

NM_020526.5

p.N432D

c.1294A>G

4 papers

NM_020526.5

p.S457P

c.1369T>C

4 papers

NM_020526.5

p.E612Q

c.1834G>C

3 papers

NM_020526.5

p.P321L

c.962C>T

3 papers

NM_020526.5

p.R375H

c.1124G>A

2 papers

NM_020526.5

p.C73S

c.217T>A

2 papers

NM_020526.5

p.C73S

c.218G>C

2 papers

NM_020526.5

p.R131H

c.392G>A

2 papers

NM_020526.5

p.G160S

c.478G>A