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.V1338I

c.4012G>A

Surrounding Variants

1 paper

NM_001039753.4

p.R1335Splc

c.4005-11C>T

2 papers

NM_001039753.4

p.T1354fs

c.4060_4061fs

2 papers

NM_001039753.4

p.K1357fs

c.4069_4070fs

1 paper

NM_001039753.4

p.D1366Y

c.4096G>T

1 paper

NM_001039753.4

p.R1372K

c.4115G>A

2 papers

NM_001039753.4

p.R1377Q

c.4130G>A

1 paper

NM_001039753.4

p.L1383delFs

c.4147_4148delCT

1 paper

NM_001039753.4

p.L1383fs

c.4147_4148fs

1 paper

NM_001039753.4

p.G1397D

c.4190G>A

1 paper

NM_001039753.4

p.Q1436H

c.4308G>C

1 paper

NM_001039753.4

p.Q1436H

c.4308G>T

1 paper

NM_001039753.4

p.A1448T

c.4342G>A