Varaico: Literature-Extracted Genetic Variants

Gene:PANK1
Variant:p.M1I

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.M1I
c.3G>C
Surrounding Variants
1 paper
NM_148977.3
p.M1I
c.3G>T
1 paper
NM_148977.3
p.M1I
c.3G>A
1 paper
NM_148977.3
p.G2insFs
c.5dupG
1 paper
NM_148977.3
p.D3insFs
c.7_8ins7
1 paper
NM_148977.3
p.D3insFs
c.9dupC
1 paper
NM_148977.3
p.R4_S5ins2
c.12_13ins6
1 paper
NM_148977.3
p.S11S
c.33G>A
1 paper
NM_148977.3
p.L31L
c.93G>A
1 paper
NM_148977.3
p.P42P
c.126G>A
2 papers
NM_148977.3
p.G53R
c.157G>C
2 papers
NM_148977.3
p.S54delFs
c.161delC
1 paper
NM_148977.3
p.L72insFs
c.215_216insA
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."