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.A5P

c.13G>C

Surrounding Variants

1 paper

NM_019063.5

p.D2N

c.4G>A

1 paper

NM_019063.5

p.M1I

c.3G>A

1 paper

NM_019063.5

p.M1_D2insFs

c.3_4insA