Varaico: Literature-Extracted Genetic Variants

Gene:PHB2
Variant:p.Y193insFs

PHB2

391 papers

Pfam Domains

Band_7aa 41–232UCSCSPFH domain / Band 7 family

Gene Aliases

HGNC Name

prohibitin 2

HGNC Alias Symbols

REA; BCAP37; Bap37; p22

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_001144831.2
p.Y193insFs
c.579dupC
Surrounding Variants
1 paper
NM_001144831.2
p.R191Q
c.572G>A
1 paper
NM_001144831.2
p.V197I
c.589G>A
1 paper
NM_001144831.2
p.R191*
c.571C>T
1 paper
NM_001144831.2
p.S190C
c.568A>T
1 paper
NM_001144831.2
p.K200R
c.599A>G
1 paper
NM_001144831.2
p.Q201_V202insFs
c.603_604insG
2 papers
NM_001144831.2
p.A203Splc
c.607+1G>A
2 papers
NM_001144831.2
p.A183A
c.549C>T
1 paper
NM_001144831.2
p.V182insFs
c.545dupT
1 paper
NM_001144831.2
p.V182V
c.546G>A
3 papers
NM_001144831.2
p.D180N
c.538G>A
1 paper
NM_001144831.2
p.S176fs
c.526_527fs
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