Varaico: Literature-Extracted Genetic Variants

Gene:PHB2
Variant:p.Q122*

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.Q122*
c.364C>T
Surrounding Variants
2 papers
NM_001144831.2
p.Y121H
c.361T>C
1 paper
NM_001144831.2
p.R123C
c.367C>T
1 paper
NM_001144831.2
p.M120I
c.360G>A
1 paper
NM_001144831.2
p.M120V
c.358A>G
1 paper
NM_001144831.2
p.P118S
c.352C>T
1 paper
NM_001144831.2
p.E116D
c.348G>C
1 paper
NM_001144831.2
p.D127G
c.380A>G
1 paper
NM_001144831.2
p.L126_D127delFs
c.378_379delCC
1 paper
NM_001144831.2
p.E129*
c.385G>T
1 paper
NM_001144831.2
p.Y128_E129insFs
c.384_385insC
1 paper
NM_001144831.2
p.E129K
c.385G>A
1 paper
NM_001144831.2
p.E130K
c.388G>A
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