Varaico: Literature-Extracted Genetic Variants

Gene:BTBD16
Variant:p.E177Q

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
3 papers
NM_144587.5
p.E177Q
c.529G>C
Surrounding Variants
1 paper
NM_144587.5
p.D178H
c.532G>C
1 paper
NM_144587.5
p.I188I
c.564C>A
1 paper
NM_144587.5
p.L189L
c.567C>A
1 paper
NM_144587.5
p.E102G
c.305A>G
1 paper
NM_144587.5
p.E85*
c.253G>T
1 paper
NM_144587.5
p.L84F
c.250C>T
1 paper
NM_144587.5
p.V201M
c.601G>A
1 paper
NM_144587.5
p.C219W
c.657C>G
1 paper
NM_144587.5
p.G78V
c.233G>T
1 paper
NM_144587.5
p.E68_K71del4
c.202_212del12
1 paper
NM_144587.5
p.K222M
c.665A>T
1 paper
NM_144587.5
p.G242A
c.725G>C
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