Varaico: Literature-Extracted Genetic Variants

Gene:PANK1
Variant:p.D212G

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.D212G
c.635A>G
Surrounding Variants
1 paper
NM_148977.3
p.G205_K208del0
c.614_622del9
2 papers
NM_148977.3
p.M215_I216Splc
c.645+3A>G
2 papers
NM_148977.3
p.N191delFs
c.573delG
4 papers
NM_148977.3
p.K190insFs
c.569_570insA
1 paper
NM_148977.3
p.K190E
c.568A>G
1 paper
NM_148977.3
p.R182insFs
c.545_546insA
1 paper
NM_148977.3
p.F172_P176delFs
c.515_527del13
1 paper
NM_148977.3
p.P176S
c.526C>T
1 paper
NM_148977.3
p.P176fs
c.526_527fs
1 paper
NM_148977.3
p.L170_R174delFs
c.510_522del13
1 paper
NM_148977.3
p.G168_H171delFs
c.502_512del11
1 paper
NM_148977.3
p.G168V
c.503G>T
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