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

2 papers

NM_017512.7

p.D33N

c.97G>A

Surrounding Variants

1 paper

NM_017512.7

p.P32delFs

c.95_96delAG

1 paper

NM_017512.7

p.D31G

c.92A>G

1 paper

NM_017512.7

p.H29Y

c.85C>T

2 papers

NM_017512.7

p.Y38C

c.113A>G

1 paper

NM_017512.7

p.D47fs

c.139_140fs

1 paper

NM_017512.7

p.D47_I49delFs

c.140_147del8

1 paper

NM_017512.7

p.G51fs

c.151_152fs

1 paper

NM_017512.7

p.G53G

c.159A>G

1 paper

NM_017512.7

p.T57S

c.169A>T

1 paper

NM_017512.7

p.G61D

c.182G>A

2 papers

NM_017512.7

p.T62I

c.185C>T

1 paper

NM_017512.7

p.D26fs

c.76_77fs