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.E1741D

c.5223G>C

Surrounding Variants

1 paper

NM_001039753.4

p.E1741D

c.5223G>T

1 paper

NM_001039753.4

p.M1747T

c.5240T>C

1 paper

NM_001039753.4

p.E1751D

c.5253G>C

1 paper

NM_001039753.4

p.E1751D

c.5253G>T

1 paper

NM_001039753.4

p.L1722*

c.5165T>A

1 paper

NM_001039753.4

p.L1722*

c.5165T>G

1 paper

NM_001039753.4

p.G1764G

c.5292G>A

1 paper

NM_001039753.4

p.K1765fs

c.5293_5294fs

1 paper

NM_001039753.4

p.R1783Q

c.5348G>A

1 paper

NM_001039753.4

p.E1673insFs

c.5018dupA

1 paper

NM_001039753.4

p.E1673fs

c.5017_5018fs

2 papers

NM_001039753.4

p.E1667*

c.4999G>T