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

2 papers

NM_183387.3

p.T399M

c.1196C>T

Surrounding Variants

1 paper

NM_183387.3

p.V432A

c.1295T>C

1 paper

NM_183387.3

p.D433G

c.1298A>G

1 paper

NM_183387.3

p.R440H

c.1319G>A

1 paper

NM_183387.3

p.G482Splc

c.1445-1G>A

1 paper

NM_183387.3

p.G482E

c.1445G>A

1 paper

NM_183387.3

p.T487S

c.1459A>T

1 paper

NM_183387.3

p.W500*

c.1499G>A

1 paper

NM_183387.3

p.W500*

c.1500G>A

1 paper

NM_183387.3

p.T501K

c.1502C>A

1 paper

NM_183387.3

p.W512C

c.1536G>T

1 paper

NM_183387.3

p.W512C

c.1536G>C

1 paper

NM_183387.3

p.D517E

c.1551T>G