Varaico: Literature-Extracted Genetic Variants

Gene:PANK1
Variant:p.V282_S283delFs

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.V282_S283delFs
c.846_847delTG
Surrounding Variants
1 paper
NM_148977.3
p.I284M
c.852T>G
1 paper
NM_148977.3
p.I284delFs
c.850_851delAT
1 paper
NM_148977.3
p.V276_N277delFs
c.828_829delTA
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.L274delFs
c.821_822delCA
1 paper
NM_148977.3
p.K294I
c.881A>T
1 paper
NM_148977.3
p.P270S
c.808C>T
2 papers
NM_148977.3
p.D268G
c.803A>G
1 paper
NM_148977.3
p.G298G
c.894G>A
1 paper
NM_148977.3
p.S300Splc
c.899+1G>T
1 paper
NM_148977.3
p.Y265*
c.795C>A
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