Varaico: Literature-Extracted Genetic Variants

Gene:PHB1
Variant:p.R133H

PHB1

68 papers

RefSeq Summary

This gene is evolutionarily conserved, and its product is proposed to play a role in human cellular senescence and tumor suppression. Antiproliferative activity is reported to be localized to the 3' U...

Pfam Domains

Band_7aa 28–217UCSCSPFH domain / Band 7 family

Gene Aliases

HGNC Name

prohibitin 1

HGNC Alias Symbol

BAP32

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_002634.4
p.R133H
c.398G>A
Surrounding Variants
1 paper
NM_002634.4
p.V168M
c.502G>A
1 paper
NM_002634.4
p.V131_A132Splc
c.393+9A>G
1 paper
NM_002634.4
p.S121A
c.361T>G
3 papers
NM_002634.4
p.Y114F
c.341A>T
1 paper
NM_002634.4
p.I110F
c.328A>T
1 paper
NM_002634.4
p.S109R
c.327C>A
1 paper
NM_002634.4
p.R97Q
c.290G>A
1 paper
NM_002634.4
p.L92L
c.276G>T
1 paper
NM_002634.4
p.L170_T171Splc
c.511-70A>G
2 papers
NM_002634.4
p.L170_T171Splc
c.511-12C>G
1 paper
NM_002634.4
p.K202_A203Splc
c.606+71G>A
1 paper
NM_002634.4
p.P77A
c.229C>G
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