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.Q608R

c.1823A>G

Surrounding Variants

1 paper

NM_183387.3

p.S587_V588delFs

c.1759_1762del4

1 paper

NM_183387.3

p.A584V

c.1751C>T

1 paper

NM_183387.3

p.H565D

c.1693C>G

1 paper

NM_183387.3

p.Y641N

c.1921T>A

1 paper

NM_183387.3

p.R643*

c.1927C>T

1 paper

NM_183387.3

p.Q644_V645Splc

c.1933-10A>G

1 paper

NM_183387.3

p.G684Splc

c.2051+1G>T

1 paper

NM_183387.3

p.G684S

c.2050G>A

1 paper

NM_183387.3

p.R686I

c.2057G>T

1 paper

NM_183387.3

p.L694delFs

c.2081_2082delCA

1 paper

NM_183387.3

p.N718delFs

c.2153_2154delGT

1 paper

NM_183387.3

p.G725C

c.2173G>T