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.G1548R

c.4642G>C

Surrounding Variants

1 paper

NM_001039753.4

p.G1548R

c.4642G>A

1 paper

NM_001039753.4

p.G1548W

c.4642G>T

3 papers

NM_001039753.4

p.A1539T

c.4615G>A

1 paper

NM_001039753.4

p.G1526R

c.4576G>A

1 paper

NM_001039753.4

p.G1526R

c.4576G>C

1 paper

NM_001039753.4

p.R1515C

c.4543C>T

1 paper

NM_001039753.4

p.G1572A

c.4715G>C

1 paper

NM_001039753.4

p.F1599L

c.4795T>C

1 paper

NM_001039753.4

p.F1599L

c.4797C>A

1 paper

NM_001039753.4

p.F1599L

c.4797C>G

1 paper

NM_001039753.4

p.D1607D

c.4821T>C

1 paper

NM_001039753.4

p.P1618Splc

c.4853+6C>T