Varaico: Literature-Extracted Genetic Variants

Gene:NAT8
Variant:p.T131I

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.T131I
c.392C>T
Surrounding Variants
1 paper
NM_003960.4
p.D129E
c.387T>G
1 paper
NM_003960.4
p.R133R
c.399G>A
2 papers
NM_003960.4
p.P126L
c.377C>T
1 paper
NM_003960.4
p.L137W
c.410T>G
6 papers
NM_003960.4
p.L137F
c.411G>T
6 papers
NM_003960.4
p.L137F
c.411G>C
1 paper
NM_003960.4
p.G123R
c.367G>C
1 paper
NM_003960.4
p.G123R
c.367G>A
1 paper
NM_003960.4
p.V122I
c.364G>A
1 paper
NM_003960.4
p.M121T
c.362T>C
14 papers
NM_003960.4
p.F143S
c.428T>C
1 paper
NM_003960.4
p.V119M
c.355G>A
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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."