Varaico: Literature-Extracted Genetic Variants

ENOSF1

52 papers

RefSeq Summary

This gene can encode a mitochondrial enzyme that is thought to convert L-fuconate to 2-keto-3-deoxy-L-fuconate. This locus was originally identified as the source of antisense RNAs of the adjacent thy...

Pfam Domains

MR_MLE_Naa 25–139UCSCMandelate racemase / muconate lactonizing enzyme, N-terminal domain

MR_MLE_Caa 203–422UCSCEnolase C-terminal domain-like

Gene Aliases

HGNC Name

enolase superfamily member 1

HGNC Alias Symbols

HSRTSBETA; rTS; TYMSAS; FUCD

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_017512.7

p.R178_E179delFs

c.534_535delCT

Surrounding Variants

1 paper

NM_017512.7

p.E177G

c.530A>G

2 papers

NM_017512.7

p.I155N

c.464T>A

1 paper

NM_017512.7

p.C149_D151del0

c.447_452del6

1 paper

NM_017512.7

p.D151H

c.451G>C

1 paper

NM_017512.7

p.L146P

c.437T>C

2 papers

NM_017512.7

p.M145T

c.434T>C

1 paper

NM_017512.7

p.T191M

c.572C>T

1 paper

NM_017512.7

p.C194F

c.581G>T

1 paper

NM_017512.7

p.G198_Y199delFs

c.594_597del4

1 paper

NM_017512.7

p.G198_Y199del2

c.592_596del6

1 paper

NM_017512.7

p.A114V

c.341C>T

1 paper

NM_017512.7

p.K108*

c.322A>T