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.V221_Q228del8

c.661_683del24

Surrounding Variants

1 paper

NM_017512.7

p.D230V

c.689A>T

1 paper

NM_017512.7

p.E244A

c.731A>C

2 papers

NM_017512.7

p.K245E

c.733A>G

3 papers

NM_017512.7

p.L247_M248Splc

c.742-227G>A

1 paper

NM_017512.7

p.K271E

c.811A>G

1 paper

NM_017512.7

p.A288T

c.862G>A

1 paper

NM_017512.7

p.L285_A288del4

c.853_863del12

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.C194F

c.581G>T

1 paper

NM_017512.7

p.T191M

c.572C>T

1 paper

NM_017512.7

p.R178_E179delFs

c.534_535delCT