Varaico: Literature-Extracted Genetic Variants

EML5

14q31.3 (UCSC)OMIM GTEx

83 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 5

HGNC Alias Symbols

HuEMAP-2; EMAP-2; FAP16

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_183387.3

p.K831N

c.2493A>T

Surrounding Variants

1 paper

NM_183387.3

p.K831N

c.2493A>C

1 paper

NM_183387.3

p.K831E

c.2491A>G

1 paper

NM_183387.3

p.P826L

c.2477C>T

1 paper

NM_183387.3

p.D793A

c.2378A>C

1 paper

NM_183387.3

p.I792V

c.2374A>G

1 paper

NM_183387.3

p.R786C

c.2356C>T

1 paper

NM_183387.3

p.A782Splc

c.2344+1G>A

1 paper

NM_183387.3

p.K762*

c.2284A>T

1 paper

NM_183387.3

p.D757N

c.2269G>A

1 paper

NM_183387.3

p.G848E

c.2543G>A

1 paper

NM_183387.3

p.E876D

c.2628G>T

1 paper

NM_183387.3

p.E876D

c.2628G>C