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.H1240Y

c.3718C>T

Surrounding Variants

1 paper

NM_183387.3

p.R1245H

c.3734G>A

1 paper

NM_183387.3

p.G1226W

c.3676G>T

1 paper

NM_183387.3

p.G1258S

c.3772G>A

1 paper

NM_183387.3

p.M1264V

c.3790A>G

1 paper

NM_183387.3

p.E1271K

c.3811G>A

1 paper

NM_183387.3

p.R1277insFs

c.3829dupA

1 paper

NM_183387.3

p.E1283A

c.3848A>C

1 paper

NM_183387.3

p.G1293Splc

c.3877+145T>C

1 paper

NM_183387.3

p.R1316C

c.3946C>T

1 paper

NM_183387.3

p.Q1326*

c.3976C>T

1 paper

NM_183387.3

p.P1155S

c.3463C>T

1 paper

NM_183387.3

p.E1153D

c.3459A>T