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.G283Splc

c.848-42A>T

Surrounding Variants

1 paper

NM_001039753.4

p.S288S

c.864C>T

1 paper

NM_001039753.4

p.S303R

c.907A>C

1 paper

NM_001039753.4

p.S303R

c.909T>A

2 papers

NM_001039753.4

p.S303R

c.909T>G

1 paper

NM_001039753.4

p.R311*

c.931C>T

1 paper

NM_001039753.4

p.R313*

c.937C>T

1 paper

NM_001039753.4

p.I360I

c.1080C>A

1 paper

NM_001039753.4

p.M365T

c.1094T>C

1 paper

NM_001039753.4

p.D377N

c.1129G>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.E400V

c.1199A>T