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.R1023C

c.3067C>T

Surrounding Variants

1 paper

NM_001039753.4

p.R1023H

c.3068G>A

1 paper

NM_001039753.4

p.D1019N

c.3055G>A

1 paper

NM_001039753.4

p.V1057F

c.3169G>T

1 paper

NM_001039753.4

p.D1061N

c.3181G>A

1 paper

NM_001039753.4

p.N1068N

c.3204T>C

1 paper

NM_001039753.4

p.G1095E

c.3284G>A

1 paper

NM_001039753.4

p.G1119S

c.3355G>A

1 paper

NM_001039753.4

p.S947L

c.2840C>T

1 paper

NM_001039753.4

p.K937N

c.2811G>C

1 paper

NM_001039753.4

p.K937N

c.2811G>T

1 paper

NM_001039753.4

p.T918A

c.2752A>G

2 papers

NM_001039753.4

p.F907Y

c.2720T>A