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.K937N

c.2811G>C

Surrounding Variants

1 paper

NM_001039753.4

p.K937N

c.2811G>T

1 paper

NM_001039753.4

p.S947L

c.2840C>T

1 paper

NM_001039753.4

p.T918A

c.2752A>G

2 papers

NM_001039753.4

p.F907Y

c.2720T>A

1 paper

NM_001039753.4

p.V878M

c.2632G>A

1 paper

NM_001039753.4

p.G855R

c.2563G>A

1 paper

NM_001039753.4

p.G848R

c.2542G>A

1 paper

NM_001039753.4

p.G848R

c.2542G>C

1 paper

NM_001039753.4

p.G847Splc

c.2539+105A>G

1 paper

NM_001039753.4

p.G847Splc

c.2539+23T>C

2 papers

NM_001039753.4

p.W843L

c.2528G>T

2 papers

NM_001039753.4

p.H828Y

c.2482C>T