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.I220V

c.658A>G

Surrounding Variants

2 papers

NM_001039753.4

p.Y221C

c.662A>G

1 paper

NM_001039753.4

p.R230H

c.689G>A

1 paper

NM_001039753.4

p.E208D

c.624A>C

1 paper

NM_001039753.4

p.E208D

c.624A>T

1 paper

NM_001039753.4

p.E247V

c.740A>T

1 paper

NM_001039753.4

p.D256H

c.766G>C

1 paper

NM_001039753.4

p.R260*

c.778C>T

1 paper

NM_001039753.4

p.L261P

c.782T>C