Varaico: Literature-Extracted Genetic Variants

Gene:NEU4
Variant:p.E414D

NEU4

49 papers

RefSeq Summary

The protein encoded by this gene belongs to a family of glycohydrolytic enzymes, which remove terminal sialic acid residues from various sialo derivatives, such as glycoproteins, glycolipids, oligosac...

Pfam Domains

BNR_2aa 35–279UCSCBNR repeat-like domain

Gene Aliases

HGNC Name

neuraminidase 4

HGNC Previous Names

sialidase 4; neuraminidase 4 (sialidase)

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001167600.3
p.E414D
c.1242G>C
Surrounding Variants
1 paper
NM_001167600.3
p.A428fs
c.1282_1283fs
1 paper
NM_001167600.3
p.E430K
c.1288G>A
1 paper
NM_001167600.3
p.R395C
c.1183C>T
1 paper
NM_001167600.3
p.E440Q
c.1318G>C
1 paper
NM_001167600.3
p.D448E
c.1344T>A
1 paper
NM_001167600.3
p.D448E
c.1344T>G
1 paper
NM_001167600.3
p.P367S
c.1099C>T
1 paper
NM_001167599.3
p.L377P
c.1130T>C
1 paper
NM_001167600.3
p.R350M
c.1049G>T
1 paper
NM_001167600.3
p.W482*
c.1445G>A
1 paper
NM_001167600.3
p.W482*
c.1446G>A
1 paper
NM_001167600.3
p.Q346_S354del9
c.1036_1061del27
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