Varaico: Literature-Extracted Genetic Variants

Gene:ESD
Variant:p.K17E

ESD

37 papers

RefSeq Summary

This gene encodes a serine hydrolase that belongs to the esterase D family. The encoded enzyme is active toward numerous substrates including O-acetylated sialic acids, and it may be involved in the r...

Pfam Domains

Esteraseaa 23–275UCSCPutative esterase

Gene Aliases

HGNC Name

esterase D

HGNC Previous Name

esterase D/formylglutathione hydrolase

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001984.2
p.K17E
c.49A>G
Surrounding Variants
1 paper
NM_001984.2
p.G14delFs
c.41delC
1 paper
NM_001984.2
p.F12L
c.34T>C
1 paper
NM_001984.2
p.A2A
c.6A>T
1 paper
NM_001984.2
p.E25_L26insFs
c.75_76insA
1 paper
NM_001984.2
p.L48fs
c.142_143fs
1 paper
NM_001984.2
p.G53Splc
c.158-1G>C
1 paper
NM_001984.2
p.F105S
c.314T>C
1 paper
NM_001984.2
p.D108N
c.322G>A
3 papers
NM_001984.2
p.E111*
c.331G>T
1 paper
NM_001984.2
p.D112A
c.335A>C
2 papers
NM_001984.2
p.T116A
c.346A>G
1 paper
NM_001984.2
p.E127*
c.379G>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."