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.A114V

c.341C>T

Surrounding Variants

1 paper

NM_017512.7

p.K108*

c.322A>T

1 paper

NM_017512.7

p.Q100_L101delFs

c.299_302del4

1 paper

NM_017512.7

p.L95_T96delFs

c.285_288del4

1 paper

NM_017512.7

p.L95_T96del2

c.283_287del6

1 paper

NM_017512.7

p.T96T

c.288A>T

1 paper

NM_017512.7

p.L95R

c.284T>G

1 paper

NM_017512.7

p.Y92H

c.274T>C

1 paper

NM_017512.7

p.R89*

c.265A>T

1 paper

NM_017512.7

p.D87N

c.259G>A

1 paper

NM_017512.7

p.D83A

c.248A>C

1 paper

NM_017512.7

p.H74_V76delFs

c.221_228del8

2 papers

NM_017512.7

p.M145T

c.434T>C