Varaico: Literature-Extracted Genetic Variants

EPHA5

345 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 61–233UCSCEphrin receptor ligand binding domain

Ephrin_CRDaa 234–291UCSCEphrin cysteine rich domain

fn3aa 359–458UCSCFibronectin type III domain

fn3aa 470–558UCSCFibronectin type III domain

EphA2_TMaa 576–673UCSCEphrin type-A receptor 2 transmembrane domain

PK_Tyr_Ser-Thraa 676–933UCSCProtein tyrosine and serine/threonine kinase

Gene Aliases

HGNC Name

EPH receptor A5

HGNC Alias Symbols

Hek7; TYRO4; CEK7; EHK1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001281766.3

p.G410C

c.1228G>T

Surrounding Variants

1 paper

NM_001281766.3

p.C408C

c.1224T>C

1 paper

NM_001281766.3

p.C408S

c.1223G>C

1 paper

NM_001281766.3

p.C408S

c.1222T>A

1 paper

NM_001281766.3

p.V412I

c.1234G>A

1 paper

NM_001281766.3

p.C405_E406delFs

c.1215_1216delCA

1 paper

NM_001281766.3

p.Y414H

c.1240T>C

1 paper

NM_001281766.3

p.C405*

c.1215T>A

1 paper

NM_001281766.3

p.C405R

c.1213T>C

1 paper

NM_001281766.3

p.P416T

c.1246C>A

2 papers

NM_001281766.3

p.G403C

c.1207G>T

1 paper

NM_001281766.3

p.R417fs

c.1249_1250fs

2 papers

NM_001281766.3

p.R417W

c.1249C>T