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

2 papers

NM_001281766.3

p.E84D

c.252A>C

Surrounding Variants

2 papers

NM_001281766.3

p.E84D

c.252A>T

1 paper

NM_001281766.3

p.W83L

c.248G>T

1 paper

NM_001281766.3

p.W83R

c.247T>C

1 paper

NM_001281766.3

p.W83R

c.247T>A

1 paper

NM_001281766.3

p.Y93F

c.278A>T

1 paper

NM_001281766.3

p.P95fs

c.283_284fs

1 paper

NM_001281766.3

p.P95delFs

c.284delG

1 paper

NM_001281766.3

p.Y99C

c.296A>G

1 paper

NM_001281766.3

p.Q100L

c.299A>T

1 paper

NM_001281766.3

p.Q100insFs

c.300dupA

1 paper

NM_001281766.3

p.V101fs

c.301_302fs

1 paper

NM_001281766.3

p.E106*

c.316G>T