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.Y771_C773ins1

c.2311_2319dup9

Surrounding Variants

1 paper

NM_019063.5

p.Y771_L775ins1

c.2313_2324dup12

1 paper

NM_019063.5

p.T769M

c.2306C>T

1 paper

NM_019063.5

p.W768L

c.2303G>T

1 paper

NM_019063.5

p.V774M

c.2320G>A

1 paper

NM_019063.5

p.V774A

c.2321T>C

1 paper

NM_019063.5

p.S761L

c.2282C>T

1 paper

NM_019063.5

p.R760*

c.2278C>T

1 paper

NM_019063.5

p.G781D

c.2342G>A

1 paper

NM_019063.5

p.K755I

c.2264A>T

1 paper

NM_019063.5

p.N752D

c.2254A>G

1 paper

NM_019063.5

p.I750_P751delFs

c.2250_2251delTC

1 paper

NM_019063.5

p.I750_P751del2

c.2248_2252del6