Varaico: Literature-Extracted Genetic Variants

Gene:NAT8
Variant:p.M94V

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.M94V
c.280A>G
Surrounding Variants
1 paper
NM_003960.4
p.M94I
c.282G>C
1 paper
NM_003960.4
p.T92T
c.276A>C
1 paper
NM_003960.4
p.S95S
c.285T>C
1 paper
NM_003960.4
p.D96V
c.287A>T
1 paper
NM_003960.4
p.T98I
c.293C>T
1 paper
NM_003960.4
p.S103N
c.308G>A
1 paper
NM_003960.4
p.E84G
c.251A>G
2 papers
NM_003960.4
p.E104K
c.310G>A
1 paper
NM_003960.4
p.T83M
c.248C>T
1 paper
NM_003960.4
p.K79K
c.237A>G
1 paper
NM_003960.4
p.K79R
c.236A>G
1 paper
NM_003960.4
p.F76F
c.228C>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."