Varaico: Literature-Extracted Genetic Variants

Gene:PANK1
Variant:p.S54delFs

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
2 papers
NM_148977.3
p.S54delFs
c.161delC
Surrounding Variants
2 papers
NM_148977.3
p.G53R
c.157G>C
1 paper
NM_148977.3
p.P42P
c.126G>A
1 paper
NM_148977.3
p.L72insFs
c.215_216insA
4 papers
NM_148977.3
p.Q68_L72delFs
c.204_214del11
1 paper
NM_148977.3
p.L31L
c.93G>A
1 paper
NM_148977.3
p.A80insFs
c.239_240insA
1 paper
NM_148977.3
p.A80A
c.240C>G
1 paper
NM_148977.3
p.C83*
c.249C>A
1 paper
NM_148977.3
p.R96insFs
c.288dupG
1 paper
NM_148977.3
p.S11S
c.33G>A
1 paper
NM_148977.3
p.P98Splc
c.292+2T>G
2 papers
NM_148977.3
p.P98Splc
c.292+5G>C
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