Varaico: Literature-Extracted Genetic Variants

Gene:NACC1
Variant:p.C19S

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.C19S
c.55T>A
Surrounding Variants
1 paper
NM_052876.4
p.C19S
c.56G>C
1 paper
NM_052876.4
p.R24W
c.70C>T
1 paper
NM_052876.4
p.V32V
c.96G>A
1 paper
NM_052876.4
p.V34A
c.101T>C
1 paper
NM_052876.4
p.V35A
c.104T>C
1 paper
NM_052876.4
p.G38S
c.112G>A
1 paper
NM_052876.4
p.R56W
c.166C>T
1 paper
NM_052876.4
p.D57E
c.171C>A
1 paper
NM_052876.4
p.D57E
c.171C>G
1 paper
NM_052876.4
p.N61fs
c.181_182fs
1 paper
NM_052876.4
p.A72_V73insFs
c.216_217insA
1 paper
NM_052876.4
p.I81V
c.241A>G
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