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.Q306H

c.918G>T

Surrounding Variants

1 paper

NM_017512.7

p.Q306H

c.918G>C

1 paper

NM_017512.7

p.I299_A302del4

c.895_905del12

1 paper

NM_017512.7

p.Q315insFs

c.943_944insC

2 papers

NM_017512.7

p.I327T

c.980T>C

1 paper

NM_017512.7

p.V335F

c.1003G>T

1 paper

NM_017512.7

p.P354R

c.1061C>G

1 paper

NM_017512.7

p.I374V

c.1120A>G

2 papers

NM_017512.7

p.R383Splc

c.1148+1G>A

1 paper

NM_017512.7

p.K410R

c.1229A>G

1 paper

NM_017512.7

p.L285_A288del4

c.853_863del12

1 paper

NM_017512.7

p.A288T

c.862G>A

1 paper

NM_017512.7

p.K271E

c.811A>G