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.S740S

c.2220G>A

Surrounding Variants

1 paper

NM_019063.5

p.S740L

c.2219C>T

1 paper

NM_019063.5

p.G741_D742insA

c.2221_2225ins3

1 paper

NM_019063.5

p.W729L

c.2186G>T

16 papers

NM_019063.5

p.G719A

c.2156G>C

2 papers

NM_019063.5

p.G719R

c.2155G>A

2 papers

NM_019063.5

p.G719R

c.2155G>C

24 papers

NM_019063.5

p.G719*

c.2155G>T

1 paper

NM_019063.5

p.D749G

c.2246A>G

1 paper

NM_019063.5

p.I750_P751del2

c.2248_2252del6

1 paper

NM_019063.5

p.I750_P751delFs

c.2250_2251delTC

1 paper

NM_019063.5

p.N752D

c.2254A>G

1 paper

NM_019063.5

p.K755I

c.2264A>T