Varaico: Literature-Extracted Genetic Variants

Gene:NACC1
Variant:p.A316Splc

NACC1

76 papers

RefSeq Summary

This gene encodes a member of the BTB/POZ protein family. BTB/POZ proteins are involved in several cellular processes including proliferation, apoptosis and transcription regulation. The encoded prote...

Pfam Domains

BTBaa 20–124UCSCBTB/POZ domain
BENaa 397–466UCSCBEN domain

Gene Aliases

HGNC Name

nucleus accumbens associated 1

HGNC Previous Symbol

BTBD14B

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
5 papers
NM_052876.4
p.A316Splc
c.946+2T>C
Surrounding Variants
1 paper
NM_052876.4
p.T305A
c.913A>G
1 paper
NM_052876.4
p.I300fs
c.898_899fs
1 paper
NM_052876.4
p.R298L
c.893G>T
19 papers
NM_052876.4
p.R298W
c.892C>T
1 paper
NM_052876.4
p.E295G
c.884A>G
1 paper
NM_052876.4
p.D283D
c.849C>T
1 paper
NM_052876.4
p.A327P
c.979G>C
1 paper
NM_052876.4
p.R331Q
c.992G>A
1 paper
NM_052876.4
p.Q350H
c.1050G>C
1 paper
NM_052876.4
p.Q350H
c.1050G>T
1 paper
NM_052876.4
p.Q241fs
c.721_722fs
1 paper
NM_052876.4
p.G240delFs
c.718delG
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