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.S1017S

c.3051C>T

Surrounding Variants

1 paper

NM_183387.3

p.A1035S

c.3103G>T

1 paper

NM_183387.3

p.R1037W

c.3109C>T

1 paper

NM_183387.3

p.G969V

c.2906G>T

1 paper

NM_183387.3

p.G969C

c.2905G>T

1 paper

NM_183387.3

p.R962C

c.2884C>T

1 paper

NM_183387.3

p.E956*

c.2866G>T

2 papers

NM_183387.3

p.L954F

c.2860C>T

1 paper

NM_183387.3

p.V925G

c.2774T>G

1 paper

NM_183387.3

p.F907delFs

c.2720delA

1 paper

NM_183387.3

p.C888F

c.2663G>T

1 paper

NM_183387.3

p.V887M

c.2659G>A

1 paper

NM_183387.3

p.E876D

c.2628G>T