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

1–12 of 166 variants

3 papers

NM_001039753.4

p.A1539T

c.4615G>A

3 papers

NM_001039753.4

p.G1666R

c.4996G>A

3 papers

NM_001039753.4

p.G1666R

c.4996G>C

2 papers

NM_001039753.4

p.Y221C

c.662A>G

2 papers

NM_001039753.4

p.S303R

c.909T>G

2 papers

NM_001039753.4

p.H403R

c.1208A>G

2 papers

NM_001039753.4

p.K805R

c.2414A>G

2 papers

NM_001039753.4

p.H828Y

c.2482C>T

2 papers

NM_001039753.4

p.W843L

c.2528G>T

2 papers

NM_001039753.4

p.F907Y

c.2720T>A

2 papers

NM_001039753.4

p.F1152delFs

c.3456delT

2 papers

NM_001039753.4

p.T1354fs

c.4060_4061fs