Varaico: Literature-Extracted Genetic Variants

Gene:NAT8
Variant:p.L187F

NAT8

285 papers

RefSeq Summary

This gene, isolated using the differential display method to detect tissue-specific genes, is specifically expressed in kidney and liver. The encoded protein shows amino acid sequence similarity to N-...

Pfam Domains

Acetyltransf_1aa 71–193UCSCAcetyltransferase (GNAT) family

Gene Aliases

HGNC Name

N-acetyltransferase 8 (putative)

HGNC Alias Symbols

Hcml1; TSC501; ATase2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
4 papers
NM_003960.4
p.L187F
c.559C>T
Surrounding Variants
1 paper
NM_003960.4
p.A186A
c.558C>A
1 paper
NM_003960.4
p.A186G
c.557C>G
1 paper
NM_003960.4
p.I180I
c.540C>T
1 paper
NM_003960.4
p.T179N
c.536C>A
65 papers
NM_003960.4
p.G197D
c.590G>A
1 paper
NM_003960.4
p.V203M
c.607G>A
4 papers
NM_003960.4
p.V203V
c.609G>T
1 paper
NM_003960.4
p.D167N
c.499G>A
1 paper
NM_003960.4
p.A209D
c.626C>A
1 paper
NM_003960.4
p.T212S
c.634A>T
2 papers
NM_003960.4
p.R159S
c.477G>T
2 papers
NM_003960.4
p.R159S
c.477G>C
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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."