Varaico: Literature-Extracted Genetic Variants

Gene:MVK
Variant:p.Y149*

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
8 papers
NM_000431.4
p.Y149*
c.447C>G
Surrounding Variants
8 papers
NM_000431.4
p.Y149*
c.447C>A
4 papers
NM_000431.4
p.S150L
c.449C>T
1 paper
NM_000431.4
p.S150_V151delFs
c.450_453del4
1 paper
NM_000431.4
p.A148V
c.443C>T
6 papers
NM_000431.4
p.V151M
c.451G>A
1 paper
NM_000431.4
p.V151L
c.451G>T
18 papers
NM_000431.4
p.A148T
c.442G>A
3 papers
NM_000431.4
p.A148P
c.442G>C
1 paper
NM_000431.4
p.A148S
c.442G>T
1 paper
NM_000431.4
p.Y149_S150ins2
c.447_448ins6
2 papers
NM_000431.4
p.C152fs
c.454_455fs
15 papers
NM_000431.4
p.A147T
c.439G>A
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