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.K1169N

c.3507G>C

Surrounding Variants

1 paper

NM_001039753.4

p.K1169N

c.3507G>T

1 paper

NM_001039753.4

p.I1170M

c.3510A>G

1 paper

NM_001039753.4

p.I1167M

c.3501C>G

1 paper

NM_001039753.4

p.A1189V

c.3566C>T

1 paper

NM_001039753.4

p.A1199T

c.3595G>A

1 paper

NM_001039753.4

p.S1200R

c.3598A>C

1 paper

NM_001039753.4

p.S1200R

c.3600T>A

1 paper

NM_001039753.4

p.S1200R

c.3600T>G

1 paper

NM_001039753.4

p.E1166E

c.3498G>A

1 paper

NM_001039753.4

p.L1150fs

c.3448_3449fs

2 papers

NM_001039753.4

p.F1152delFs

c.3456delT