Varaico: Literature-Extracted Genetic Variants

Gene:MVK
Variant:p.R124Splc

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
3 papers
NM_000431.4
p.R124Splc
c.372-6T>C
Surrounding Variants
2 papers
NM_000431.4
p.R124Splc
c.372-2A>G
1 paper
NM_000431.4
p.P127S
c.379C>T
4 papers
NM_000431.4
p.P127L
c.380C>T
4 papers
NM_000431.4
p.S128delFs
c.382_383delAG
1 paper
NM_000431.4
p.S128R
c.382A>C
1 paper
NM_000431.4
p.S128fs
c.382_383fs
1 paper
NM_000431.4
p.S128R
c.384C>A
1 paper
NM_000431.4
p.S128R
c.384C>G
1 paper
NM_000431.4
p.L129_D130del2
c.385_389del6
2 papers
NM_000431.4
p.D130_V132del0
c.389_394del6
2 papers
NM_000431.4
p.D130fs
c.388_389fs
2 papers
NM_000431.4
p.D130_I131Fs
c.388_392delinsCFs
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