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

1–12 of 242 variants

24 papers

NM_019063.5

p.G719*

c.2155G>T

16 papers

NM_019063.5

p.G719A

c.2156G>C

13 papers

NM_019063.5

p.K283E

c.847A>G

10 papers

NM_019063.5

p.I382V

c.1144A>G

8 papers

NM_019063.5

p.I324V

c.970A>G

7 papers

NM_019063.5

p.A5P

c.13G>C

7 papers

NM_019063.5

p.V285D

c.854T>A

7 papers

NM_019063.5

p.K398R

c.1193A>G

6 papers

NM_019063.5

p.E545K

c.1633G>A

5 papers

NM_019063.5

p.Q340R

c.1019A>G

3 papers

NM_019063.5

p.G466V

c.1397G>T

2 papers

NM_019063.5

p.L107V

c.319C>G