Varaico: Literature-Extracted Genetic Variants

Gene:GNPNAT1

GNPNAT1

22 papers

Pfam Domains

Acetyltransf_1aa 53–170UCSCAcetyltransferase (GNAT) family

Gene Aliases

HGNC Name

glucosamine-phosphate N-acetyltransferase 1

HGNC Alias Symbols

Gpnat1; FLJ10607

Papers
RefSeq ID
Protein change
DNA change
1–12 of 19 variants
4 papers
NM_198066.4
p.E76K
c.226G>A
1 paper
NM_198066.4
p.P7L
c.20C>T
1 paper
NM_198066.4
p.F26C
c.77T>G
1 paper
NM_198066.4
p.G36R
c.106G>C
1 paper
NM_198066.4
p.G36R
c.106G>A
1 paper
NM_198066.4
p.F54delFs
c.162delA
1 paper
NM_198066.4
p.T102I
c.305C>T
1 paper
NM_198066.4
p.A114D
c.341C>A
1 paper
NM_198066.4
p.E120D
c.360A>T
1 paper
NM_198066.4
p.E127K
c.379G>A
1 paper
NM_198066.4
p.C128F
c.383G>T
1 paper
NM_198066.4
p.Q132E
c.394C>G
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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."