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.K452R

c.1355A>G

Surrounding Variants

1 paper

NM_019063.5

p.K455*

c.1363A>T

1 paper

NM_019063.5

p.V459L

c.1375G>C

1 paper

NM_019063.5

p.V459L

c.1375G>T

1 paper

NM_019063.5

p.L462L

c.1386A>G

1 paper

NM_019063.5

p.G466A

c.1397G>C

3 papers

NM_019063.5

p.G466V

c.1397G>T

1 paper

NM_019063.5

p.G468A

c.1403G>C

1 paper

NM_019063.5

p.S475T

c.1423T>A

1 paper

NM_019063.5

p.G476R

c.1426G>C

1 paper

NM_019063.5

p.M479T

c.1436T>C

1 paper

NM_019063.5

p.L480F

c.1438C>T

2 papers

NM_019063.5

p.T486A

c.1456A>G