Varaico: Literature-Extracted Genetic Variants

Gene:PANK1
Variant:p.A217V

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.A217V
c.650C>T
Surrounding Variants
1 paper
NM_148977.3
p.A217T
c.649G>A
1 paper
NM_148977.3
p.M215_I216Splc
c.646-1G>C
1 paper
NM_148977.3
p.M215_I216Splc
c.646-1G>A
1 paper
NM_148977.3
p.E226K
c.676G>A
3 papers
NM_148977.3
p.Q232R
c.695A>G
1 paper
NM_148977.3
p.L234L
c.700C>T
1 paper
NM_148977.3
p.D238_S239del1
c.714_716delGAG
1 paper
NM_148977.3
p.G241S
c.721G>A
1 paper
NM_148977.3
p.K245R
c.734A>G
1 paper
NM_148977.3
p.E247delFs
c.739delC
1 paper
NM_148977.3
p.Y250delFs
c.749delT
1 paper
NM_148977.3
p.T255A
c.763A>G
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."