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

1 paper

NM_019063.5

p.M518R

c.1553T>G

Surrounding Variants

1 paper

NM_019063.5

p.H508R

c.1523A>G

1 paper

NM_019063.5

p.K506R

c.1517A>G

1 paper

NM_019063.5

p.I505M

c.1515C>G

1 paper

NM_019063.5

p.I505I

c.1515C>T

1 paper

NM_019063.5

p.Q500H

c.1500A>C

1 paper

NM_019063.5

p.Q500H

c.1500A>T

6 papers

NM_019063.5

p.E545K

c.1633G>A

1 paper

NM_019063.5

p.E545Q

c.1633G>C

1 paper

NM_019063.5

p.E545A

c.1634A>C

1 paper

NM_019063.5

p.E545G

c.1634A>G

1 paper

NM_019063.5

p.R556*

c.1666A>T

1 paper

NM_019063.5

p.R556T

c.1667G>C