Varaico: Literature-Extracted Genetic Variants

Gene:PHB2
Variant:p.E229K

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
1 paper
NM_001144831.2
p.E229K
c.685G>A
Surrounding Variants
2 papers
NM_001144831.2
p.E229V
c.686A>T
1 paper
NM_001144831.2
p.G230S
c.688G>A
1 paper
NM_001144831.2
p.Q227insFs
c.680dupA
1 paper
NM_001144831.2
p.I225I
c.675T>A
1 paper
NM_001144831.2
p.I225fs
c.673_674fs
1 paper
NM_001144831.2
p.E233D
c.699G>C
1 paper
NM_001144831.2
p.A234S
c.700G>T
4 papers
NM_001144831.2
p.Q223R
c.668A>G
2 papers
NM_001144831.2
p.A235T
c.703G>A
1 paper
NM_001144831.2
p.R222Q
c.665G>A
1 paper
NM_001144831.2
p.A217_R222Fs
c.651_664delinsTTTFs
1 paper
NM_001144831.2
p.A217_K218insC
c.649_653ins3
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