Varaico: Literature-Extracted Genetic Variants

Gene:HBP1
Variant:p.V176A

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
Selected Variant
1 paper
NM_012257.4
p.V176A
c.527T>C
Surrounding Variants
1 paper
NM_012257.4
p.H178fs
c.532_533fs
1 paper
NM_012257.4
p.H178ins1
c.533_534insTTC
1 paper
NM_012257.4
p.E179fs
c.535_536fs
1 paper
NM_012257.4
p.A164A
c.492C>T
2 papers
NM_012257.4
p.G188ins1
c.563_564insTTC
1 paper
NM_012257.4
p.M192T
c.575T>C
1 paper
NM_012257.4
p.L216F
c.648G>C
1 paper
NM_012257.4
p.L216F
c.648G>T
1 paper
NM_012257.4
p.I117M
c.351C>G
1 paper
NM_012257.4
p.T112A
c.334A>G
2 papers
NM_012257.4
p.R104H
c.311G>A
1 paper
NM_012257.4
p.E275K
c.823G>A
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