Varaico: Literature-Extracted Genetic Variants

Gene:MVK
Variant:p.L265P

MVK

633 papers

RefSeq Summary

This gene encodes the peroxisomal enzyme mevalonate kinase. Mevalonate is a key intermediate, and mevalonate kinase a key early enzyme, in isoprenoid and sterol synthesis. Mevalonate kinase deficiency...

Pfam Domains

GHMP_kinases_Naa 108–212UCSCGHMP kinases N terminal domain
GHMP_kinases_Caa 291–364UCSCGHMP kinases C terminal

Gene Aliases

HGNC Name

mevalonate kinase

HGNC Alias Symbols

LRBP; MK

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
12 papers
NM_000431.4
p.L265P
c.794T>C
Surrounding Variants
16 papers
NM_000431.4
p.L265R
c.794T>G
1 paper
NM_000431.4
p.L265V
c.793C>G
1 paper
NM_000431.4
p.T266P
c.796A>C
2 papers
NM_000431.4
p.L264H
c.791T>A
1 paper
NM_000431.4
p.L264P
c.791T>C
4 papers
NM_000431.4
p.L264V
c.790C>G
17 papers
NM_000431.4
p.L264F
c.790C>T
4 papers
NM_000431.4
p.L264fs
c.790_791fs
1 paper
NM_000431.4
p.P263L
c.788C>T
1 paper
NM_000431.4
p.S267L
c.800C>T
4 papers
NM_000431.4
p.I268V
c.802A>G
1 paper
NM_000431.4
p.A262G
c.785C>G
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