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

3 papers

NM_183387.3

p.I269V

c.805A>G

Surrounding Variants

1 paper

NM_183387.3

p.I269S

c.806T>G

1 paper

NM_183387.3

p.R260fs

c.778_779fs

1 paper

NM_183387.3

p.R260delFs

c.778delG

1 paper

NM_183387.3

p.R260C

c.778C>T

1 paper

NM_183387.3

p.G280R

c.838G>C

1 paper

NM_183387.3

p.G280R

c.838G>A

2 papers

NM_183387.3

p.R255T

c.764G>C

1 paper

NM_183387.3

p.T252I

c.755C>T

1 paper

NM_183387.3

p.F250S

c.749T>C

1 paper

NM_183387.3

p.A204S

c.610G>T

1 paper

NM_183387.3

p.Q198*

c.592C>T

1 paper

NM_183387.3

p.V190fs

c.568_569fs