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

1–12 of 533 variants

7 papers

NM_001281766.3

p.N81T

c.242A>C

4 papers

NM_001281766.3

p.E279K

c.835G>A

4 papers

NM_001281766.3

p.L673M

c.2017T>A

3 papers

NM_001281766.3

p.R135W

c.403C>T

3 papers

NM_001281766.3

p.K232delFs

c.696delT

3 papers

NM_001281766.3

p.R238Q

c.713G>A

3 papers

NM_001281766.3

p.R417Q

c.1250G>A

3 papers

NM_001281766.3

p.D449N

c.1345G>A

3 papers

NM_001281766.3

p.L450F

c.1350G>T

3 papers

NM_001281766.3

p.L450F

c.1350G>C

3 papers

NM_001281766.3

p.R494C

c.1480C>T

3 papers

NM_001281766.3

p.M966I

c.2898G>A