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.S97C

c.289A>T

Surrounding Variants

1 paper

NM_019063.5

p.T96I

c.287C>T

1 paper

NM_019063.5

p.H95Y

c.283C>T

1 paper

NM_019063.5

p.V99L

c.295G>C

1 paper

NM_019063.5

p.P93R

c.278C>G

1 paper

NM_019063.5

p.P93S

c.277C>T

2 papers

NM_019063.5

p.L107V

c.319C>G

1 paper

NM_019063.5

p.N85S

c.254A>G

1 paper

NM_019063.5

p.T84S

c.251C>G

1 paper

NM_019063.5

p.T84S

c.250A>T

1 paper

NM_019063.5

p.P79L

c.236C>T

1 paper

NM_019063.5

p.Q71_P72insFs

c.213_214insT

1 paper

NM_019063.5

p.Q71_R75del5

c.211_224del15