Varaico: Literature-Extracted Genetic Variants

Gene:NAT8
Variant:p.L43V

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
1 paper
NM_003960.4
p.L43V
c.127C>G
Surrounding Variants
1 paper
NM_003960.4
p.T42S
c.125C>G
1 paper
NM_003960.4
p.R41Q
c.122G>A
1 paper
NM_003960.4
p.P50S
c.148C>T
1 paper
NM_003960.4
p.L54P
c.161T>C
1 paper
NM_003960.4
p.L55M
c.163C>A
1 paper
NM_003960.4
p.A29V
c.86C>T
1 paper
NM_003960.4
p.H28Q
c.84T>G
1 paper
NM_003960.4
p.H28Q
c.84T>A
1 paper
NM_003960.4
p.E27K
c.79G>A
1 paper
NM_003960.4
p.A26D
c.77C>A
1 paper
NM_003960.4
p.W60S
c.179G>C
2 papers
NM_003960.4
p.G24V
c.71G>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."