Varaico: Literature-Extracted Genetic Variants

EML6

2p16.1 (UCSC)OMIM GTEx

126 papers

Pfam Domains

HELPaa 6–45UCSCHELP motif

Beta-prop_EMLaa 53–308UCSCEchinoderm microtubule-associated protein first beta-propeller

Beta-prop_EML_2aa 328–593UCSCEchinoderm microtubule-associated protein second beta-propeller

HELPaa 672–711UCSCHELP motif

Beta-prop_EMLaa 719–983UCSCEchinoderm microtubule-associated protein first beta-propeller

Beta-prop_EML_2aa 1001–1268UCSCEchinoderm microtubule-associated protein second beta-propeller

Gene Aliases

HGNC Name

EMAP like 6

HGNC Alias Symbol

FLJ42562

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001039753.4

p.E409K

c.1225G>A

Surrounding Variants

2 papers

NM_001039753.4

p.H403R

c.1208A>G

1 paper

NM_001039753.4

p.E400V

c.1199A>T

1 paper

NM_001039753.4

p.P431L

c.1292C>T

1 paper

NM_001039753.4

p.D470N

c.1408G>A

1 paper

NM_001039753.4

p.G471C

c.1411G>T

1 paper

NM_001039753.4

p.R475Q

c.1424G>A

1 paper

NM_001039753.4

p.G378R

c.1132G>A

1 paper

NM_001039753.4

p.G378R

c.1132G>C

1 paper

NM_001039753.4

p.D377N

c.1129G>A

1 paper

NM_001039753.4

p.M365T

c.1094T>C

1 paper

NM_001039753.4

p.I360I

c.1080C>A

1 paper

NM_001039753.4

p.P496S

c.1486C>T