Varaico: Literature-Extracted Genetic Variants

Gene:PANK1
Variant:p.N387_N388insFs

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
3 papers
NM_148977.3
p.N387_N388insFs
c.1161_1162insG
Surrounding Variants
1 paper
NM_148977.3
p.N387insFs
c.1160_1161insG
1 paper
NM_148977.3
p.N388S
c.1163A>G
1 paper
NM_148977.3
p.D376_N388del13
c.1126_1163del39
1 paper
NM_148977.3
p.T384N
c.1151C>A
1 paper
NM_148977.3
p.I392insFs
c.1174dupA
1 paper
NM_148977.3
p.S391_I392insFs
c.1171_1174dup4
1 paper
NM_148977.3
p.I392_A393delFs
c.1176_1177delCA
1 paper
NM_148977.3
p.A397V
c.1190C>T
4 papers
NM_148977.3
p.L377P
c.1130T>C
1 paper
NM_148977.3
p.D376E
c.1128C>G
1 paper
NM_148977.3
p.D376E
c.1128C>A
1 paper
NM_148977.3
p.N399T
c.1196A>C
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