Varaico: Literature-Extracted Genetic Variants

Gene:HBP1

HBP1

52 papers

Pfam Domains

AXHaa 215–339UCSCAtaxin-1 and HBP1 module (AXH)
HMG_boxaa 434–501UCSCHMG (high mobility group) box

Gene Aliases

HGNC Name

HMG-box transcription factor 1

Papers
RefSeq ID
Protein change
DNA change
1–12 of 39 variants
2 papers
NM_012257.4
p.A25T
c.73G>A
2 papers
NM_012257.4
p.R104H
c.311G>A
2 papers
NM_012257.4
p.G188ins1
c.563_564insTTC
1 paper
NM_012257.4
p.Q9R
c.26A>G
1 paper
NM_012257.4
p.E52E
c.156A>G
1 paper
NM_012257.4
p.A64V
c.191C>T
1 paper
NM_012257.4
p.T112A
c.334A>G
1 paper
NM_012257.4
p.I117M
c.351C>G
1 paper
NM_012257.4
p.A164A
c.492C>T
1 paper
NM_012257.4
p.V176A
c.527T>C
1 paper
NM_012257.4
p.H178fs
c.532_533fs
1 paper
NM_012257.4
p.H178ins1
c.533_534insTTC
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