Varaico: Literature-Extracted Genetic Variants

EML4

467 papers

RefSeq Summary

This gene is a member of the echinoderm microtubule associated protein-like family. The encoded WD-repeat protein may be involved in microtubule formation. Abnormal fusion of parts of this gene with p...

Pfam Domains

HELPaa 254–293UCSCHELP motif

Beta-prop_EMLaa 301–578UCSCEchinoderm microtubule-associated protein first beta-propeller

Beta-prop_EML_2aa 595–864UCSCEchinoderm microtubule-associated protein second beta-propeller

Gene Aliases

HGNC Name

EMAP like 4

HGNC Previous Symbol

C2orf2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

7 papers

NM_019063.5

p.V285D

c.854T>A

Surrounding Variants

2 papers

NM_019063.5

p.I284I

c.852A>T

1 paper

NM_019063.5

p.K283Q

c.847A>C

13 papers

NM_019063.5

p.K283E

c.847A>G

1 paper

NM_001145076.3

p.K225*

c.673A>T

1 paper

NM_019063.5

p.G282insFs

c.844dupG

1 paper

NM_019063.5

p.A289T

c.865G>A

1 paper

NM_019063.5

p.A289V

c.866C>T

1 paper

NM_019063.5

p.R268Q

c.803G>A

1 paper

NM_019063.5

p.R268*

c.802C>T

1 paper

NM_019063.5

p.R303Q

c.908G>A

1 paper

NM_019063.5

p.G266S

c.796G>A

1 paper

NM_019063.5

p.P319L

c.956C>T