Varaico: Literature-Extracted Genetic Variants

Gene:NAT8
Variant:p.L64F

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
6 papers
NM_003960.4
p.L64F
c.190C>T
Surrounding Variants
1 paper
NM_003960.4
p.A63V
c.188C>T
1 paper
NM_003960.4
p.V65L
c.193G>T
1 paper
NM_003960.4
p.V65L
c.193G>C
1 paper
NM_003960.4
p.L62L
c.186A>G
1 paper
NM_003960.4
p.L62V
c.184C>G
1 paper
NM_003960.4
p.W60S
c.179G>C
1 paper
NM_003960.4
p.I68V
c.202A>G
1 paper
NM_003960.4
p.L55M
c.163C>A
1 paper
NM_003960.4
p.L54P
c.161T>C
1 paper
NM_003960.4
p.F76F
c.228C>T
1 paper
NM_003960.4
p.P50S
c.148C>T
1 paper
NM_003960.4
p.K79R
c.236A>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."