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

1–12 of 157 variants

3 papers

NM_183387.3

p.I269V

c.805A>G

2 papers

NM_183387.3

p.V37I

c.109G>A

2 papers

NM_183387.3

p.R255T

c.764G>C

2 papers

NM_183387.3

p.T399M

c.1196C>T

2 papers

NM_183387.3

p.L954F

c.2860C>T

2 papers

NM_183387.3

p.N1068Y

c.3202A>T

1 paper

NM_183387.3

p.M1ins2

c.2_3ins6

1 paper

NM_183387.3

p.A3ins2

c.8_9ins6

1 paper

NM_183387.3

p.Y29insFs

c.86_87ins8

1 paper

NM_183387.3

p.T31_A32insFs

c.93_94ins8

1 paper

NM_183387.3

p.F39F

c.117C>T

1 paper

NM_183387.3

p.V45L

c.133G>T