Varaico: Literature-Extracted Genetic Variants

Gene:PANK1
Variant:p.Y265*

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.Y265*
c.795C>A
Surrounding Variants
2 papers
NM_148977.3
p.P264S
c.790C>T
2 papers
NM_148977.3
p.D268G
c.803A>G
1 paper
NM_148977.3
p.P270S
c.808C>T
1 paper
NM_148977.3
p.L274delFs
c.821_822delCA
2 papers
NM_148977.3
p.L275fs
c.823_824fs
2 papers
NM_148977.3
p.L275delFs
c.823_824delAG
1 paper
NM_148977.3
p.T255I
c.764C>T
1 paper
NM_148977.3
p.T255A
c.763A>G
1 paper
NM_148977.3
p.V276_N277delFs
c.828_829delTA
1 paper
NM_148977.3
p.Y250delFs
c.749delT
1 paper
NM_148977.3
p.V282_S283delFs
c.846_847delTG
1 paper
NM_148977.3
p.E247delFs
c.739delC
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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."