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Gene VHL
Variant L128H
Impact List missense
Protein Effect unknown
Gene Variant Descriptions VHL L128H lies within the CCT complex-binding region of the Vhl protein (UniProt.org). L128H has been identified in the scientific literature (PMID: 15956968, PMID: 35110537), but has not been biochemically characterized and therefore, its effect on Vhl protein function is unknown (PubMed, Jun 2024).
Associated Drug Resistance
Category Variants Paths

VHL mutant VHL L128H

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Transcript NM_000551.4
gDNA chr3:g.10146556T>A
cDNA c.383T>A
Protein p.L128H
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001354723.1 chr3:g.10142805T>A c.383T>A p.L128H RefSeq GRCh38/hg38
NM_001354723.2 chr3:g.10142805T>A c.383T>A p.L128H RefSeq GRCh38/hg38
NM_198156.3 chr3:g.10149829_10149830delTAinsAT c.383_384delTAinsAT p.L128H RefSeq GRCh38/hg38
NM_000551.4 chr3:g.10146556T>A c.383T>A p.L128H RefSeq GRCh38/hg38
NM_198156 chr3:g.10149829_10149830delTAinsAT c.383_384delTAinsAT p.L128H RefSeq GRCh38/hg38
NM_000551.3 chr3:g.10146556T>A c.383T>A p.L128H RefSeq GRCh38/hg38
NM_198156.2 chr3:g.10149829_10149830delTAinsAT c.383_384delTAinsAT p.L128H RefSeq GRCh38/hg38
NM_000551 chr3:g.10146556T>A c.383T>A p.L128H RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows if any text in any cell matches the filter term
  • Use simple literal full or partial string matches
  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

  • Generally, the default sort order for tables is set to be first column ascending; however, specific tables may set a different default sort order.
  • Click on any column header arrows to sort by that column
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Molecular Profile Protein Effect Treatment Approaches
VHL L128H unknown