Varaico: Literature-Extracted Genetic Variants

Gene:ALPK1
Variant:p.D831A

ALPK1

191 papers

RefSeq Summary

This gene encodes an alpha kinase. Mice which were homozygous for disrupted copies of this gene exhibited coordination defects (PMID: 21208416). Multiple transcript variants encoding different isoform...

Pfam Domains

Alpha_kinaseaa 1042–1229UCSCAlpha-kinase family

Gene Aliases

HGNC Name

alpha kinase 1

HGNC Alias Symbols

Lak; FLJ22670; KIAA1527

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_025144.4
p.D831A
c.2492A>C
Surrounding Variants
1 paper
NM_025144.4
p.S832T
c.2494T>A
1 paper
NM_025144.4
p.S832Y
c.2495C>A
1 paper
NM_025144.4
p.Q828E
c.2482C>G
1 paper
NM_025144.4
p.L816_P817insFs
c.2448_2449ins32
1 paper
NM_025144.4
p.E854K
c.2560G>A
8 papers
NM_025144.4
p.M861T
c.2582T>C
1 paper
NM_025144.4
p.M861I
c.2583G>A
1 paper
NM_025144.4
p.M861I
c.2583G>C
1 paper
NM_025144.4
p.D801Y
c.2401G>T
1 paper
NM_025144.4
p.M861I
c.2583G>T
1 paper
NM_025144.4
p.C865Y
c.2594G>A
3 papers
NM_025144.4
p.G870S
c.2608G>A
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