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.V393L

c.1177G>C

Surrounding Variants

1 paper

NM_019063.5

p.V393L

c.1177G>T

1 paper

NM_019063.5

p.Q397*

c.1189C>T

7 papers

NM_019063.5

p.K398R

c.1193A>G

1 paper

NM_019063.5

p.A400V

c.1199C>T

2 papers

NM_019063.5

p.A403T

c.1207G>A

10 papers

NM_019063.5

p.I382V

c.1144A>G

1 paper

NM_019063.5

p.K406R

c.1217A>G

2 papers

NM_019063.5

p.D375G

c.1124A>G

2 papers

NM_019063.5

p.S352C

c.1055C>G

1 paper

NM_019063.5

p.V345M

c.1033G>A

5 papers

NM_019063.5

p.Q340R

c.1019A>G

1 paper

NM_019063.5

p.K406_T407Splc

c.1218+2417T>A