Varaico: Literature-Extracted Genetic Variants

Gene:BTBD16
Variant:p.S394L

BTBD16

50 papers

RefSeq Summary

This gene encodes a protein that contains a BTB/POZ domain. This domain mediates protein-protein interactions. A mutation in this gene may be associated with bipolar disorder. [provided by RefSeq, Sep...

Pfam Domains

BTB_BTBDGaa 81–202UCSCBTBDG BTB/POZ domain
BTBD16_Caa 380–485UCSCBTB/POZ domain-containing protein 16, C-terminal domain

Gene Aliases

HGNC Name

BTB domain containing 16

HGNC Previous Symbol

C10orf87

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_144587.5
p.S394L
c.1181C>T
Surrounding Variants
1 paper
NM_144587.5
p.T414A
c.1240A>G
1 paper
NM_144587.5
p.Q421_R422Splc
c.1264-4G>T
1 paper
NM_144587.5
p.H439P
c.1316A>C
1 paper
NM_144587.5
p.V440I
c.1318G>A
1 paper
NM_144587.5
p.R443L
c.1328G>T
1 paper
NM_144587.5
p.R446C
c.1336C>T
1 paper
NM_144587.5
p.A456A
c.1368C>T
1 paper
NM_144587.5
p.G460S
c.1378G>A
1 paper
NM_144587.5
p.E464G
c.1391A>G
1 paper
NM_144587.5
p.K471Q
c.1411A>C
1 paper
NM_144587.5
p.Q472R
c.1415A>G
1 paper
NM_144587.5
p.D374E
c.1122T>A
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