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.V738M

c.2212G>A

Surrounding Variants

1 paper

NM_001039753.4

p.D729N

c.2185G>A

1 paper

NM_001039753.4

p.H726N

c.2176C>A

1 paper

NM_001039753.4

p.H705H

c.2115C>T

1 paper

NM_001039753.4

p.F695L

c.2085C>A

1 paper

NM_001039753.4

p.F695L

c.2085C>G

1 paper

NM_001039753.4

p.F695L

c.2083T>C

1 paper

NM_001039753.4

p.Y685Y

c.2055T>C

1 paper

NM_001039753.4

p.Q770Q

c.2310A>G

1 paper

NM_001039753.4

p.D779N

c.2335G>A

1 paper

NM_001039753.4

p.L679P

c.2036T>C

1 paper

NM_001039753.4

p.N661fs

c.1981_1982fs

1 paper

NM_001039753.4

p.Q644_V645Splc

c.1932+3C>T