Varaico: Literature-Extracted Genetic Variants

Gene:NACC1
Variant:p.V506L

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
1 paper
NM_052876.4
p.V506L
c.1516G>T
Surrounding Variants
1 paper
NM_052876.4
p.V506L
c.1516G>C
1 paper
NM_052876.4
p.K498R
c.1493A>G
1 paper
NM_052876.4
p.S514G
c.1540A>G
1 paper
NM_052876.4
p.G520A
c.1559G>C
1 paper
NM_052876.4
p.E485K
c.1453G>A
1 paper
NM_052876.4
p.K483R
c.1448A>G
1 paper
NM_052876.4
p.R468H
c.1403G>A
5 papers
NM_052876.4
p.R468C
c.1402C>T
1 paper
NM_052876.4
p.D462D
c.1386C>T
1 paper
NM_052876.4
p.D462A
c.1385A>C
1 paper
NM_052876.4
p.D462N
c.1384G>A
2 papers
NM_052876.4
p.V436M
c.1306G>A
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