Varaico: Literature-Extracted Genetic Variants

Gene:PANK1
Variant:p.A327G

PANK1

144 papers

RefSeq Summary

This gene encodes a member of the pantothenate kinase family. Pantothenate kinases are key regulatory enzymes in the biosynthesis of coenzyme A (CoA). The encoded protein catalyzes the first and rate-...

Pfam Domains

Fumbleaa 101–453UCSCFumble

Gene Aliases

HGNC Name

pantothenate kinase 1

HGNC Alias Symbols

MGC24596; PANK1a; PANK1b

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_148977.3
p.A327G
c.980C>G
Surrounding Variants
1 paper
NM_148977.3
p.A327V
c.980C>T
1 paper
NM_148977.3
p.A327T
c.979G>A
3 papers
NM_148977.3
p.E324*
c.970G>T
2 papers
NM_148977.3
p.T332A
c.994A>G
2 papers
NM_148977.3
p.E317K
c.949G>A
1 paper
NM_148977.3
p.G315S
c.943G>A
2 papers
NM_148977.3
p.T314A
c.940A>G
1 paper
NM_148977.3
p.G304V
c.911G>T
1 paper
NM_148977.3
p.S354C
c.1061C>G
1 paper
NM_148977.3
p.S359Splc
c.1076+1G>C
1 paper
NM_148977.3
p.S359Splc
c.1077-1G>T
1 paper
NM_148977.3
p.G361D
c.1082G>A
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