Varaico: Literature-Extracted Genetic Variants

Gene:MVK
Variant:p.L315delFs

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
1 paper
NM_000431.4
p.L315delFs
c.943_944delCT
Surrounding Variants
1 paper
NM_000431.4
p.S314A
c.940T>G
4 papers
NM_000431.4
p.H312P
c.935A>C
10 papers
NM_000431.4
p.H312R
c.935A>G
1 paper
NM_000431.4
p.S314C
c.941C>G
1 paper
NM_000431.4
p.L315V
c.943C>G
1 paper
NM_000431.4
p.L315fs
c.943_944fs
1 paper
NM_000431.4
p.G311S
c.931G>A
2 papers
NM_000431.4
p.G311R
c.931G>C
1 paper
NM_000431.4
p.V310V
c.930G>T
1 paper
NM_000431.4
p.D316A
c.947A>C
32 papers
NM_000431.4
p.V310M
c.928G>A
4 papers
NM_000431.4
p.V310L
c.928G>C
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