Varaico: Literature-Extracted Genetic Variants

Gene:PANK1
Variant:p.V111D

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.V111D
c.332T>A
Surrounding Variants
1 paper
NM_148977.3
p.L110Q
c.329T>A
3 papers
NM_148977.3
p.P98Splc
c.293-2A>T
1 paper
NM_148977.3
p.E126fs
c.376_377fs
1 paper
NM_148977.3
p.E126_V130delFs
c.376_388del13
2 papers
NM_148977.3
p.L133Q
c.398T>A
2 papers
NM_148977.3
p.K134R
c.401A>G
1 paper
NM_148977.3
p.S135insFs
c.405dupC
1 paper
NM_148977.3
p.E131_L140delFs
c.391_418del28
1 paper
NM_148977.3
p.A145D
c.434C>A
1 paper
NM_148977.3
p.T149S
c.445A>T
1 paper
NM_148977.3
p.T149del1
c.445_447delAGT
1 paper
NM_148977.3
p.D153A
c.458A>C
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."