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

1–12 of 63 variants

3 papers

NM_017512.7

p.L247_M248Splc

c.742-227G>A

2 papers

NM_017512.7

p.D33N

c.97G>A

2 papers

NM_017512.7

p.Y38C

c.113A>G

2 papers

NM_017512.7

p.T62I

c.185C>T

2 papers

NM_017512.7

p.M145T

c.434T>C

2 papers

NM_017512.7

p.I155N

c.464T>A

2 papers

NM_017512.7

p.K245E

c.733A>G

2 papers

NM_017512.7

p.I327T

c.980T>C

2 papers

NM_017512.7

p.R383Splc

c.1148+1G>A

1 paper

NM_017512.7

p.V2del1

c.4_6delCAC

1 paper

NM_017512.7

p.G4_I6del3

c.10_17del9

1 paper

NM_017512.7

p.S7F

c.20C>T