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

8 papers

NM_019063.5

p.I324V

c.970A>G

Surrounding Variants

1 paper

NM_019063.5

p.K321fs

c.961_962fs

1 paper

NM_019063.5

p.P319L

c.956C>T

1 paper

NM_019063.5

p.A330V

c.989C>T

1 paper

NM_019063.5

p.V332A

c.995T>C

1 paper

NM_019063.5

p.D335Fs

c.1003delinsGAFs

5 papers

NM_019063.5

p.Q340R

c.1019A>G

1 paper

NM_019063.5

p.V345M

c.1033G>A

2 papers

NM_019063.5

p.S352C

c.1055C>G

1 paper

NM_019063.5

p.R303Q

c.908G>A

1 paper

NM_019063.5

p.A289V

c.866C>T

1 paper

NM_019063.5

p.A289T

c.865G>A

7 papers

NM_019063.5

p.V285D

c.854T>A