Varaico: Literature-Extracted Genetic Variants

Gene:PHB1
Variant:p.L170_T171Splc

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.L170_T171Splc
c.511-70A>G
Surrounding Variants
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.K208_E215del0
c.624_644del21
1 paper
NM_002634.4
p.L238delFs
c.714delC
1 paper
NM_002634.4
p.A243del1
c.727_728delAGC
1 paper
NM_002634.4
p.R253H
c.758G>A
1 paper
NM_002634.4
p.T258I
c.773C>T
1 paper
NM_002634.4
p.Y259F
c.776A>T
1 paper
NM_002634.4
p.L260Q
c.779T>A
1 paper
NM_002634.4
p.P261L
c.782C>T
1 paper
NM_002634.4
p.P271S
c.811C>T
1 paper
NM_002634.4
p.V168M
c.502G>A
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