Varaico: Literature-Extracted Genetic Variants

Gene:ALPK3
Variant:p.E1079K

ALPK3

240 papers

Pfam Domains

I-setaa 77–169UCSCImmunoglobulin I-set domain
Alpha_kinaseaa 1418–1617UCSCAlpha-kinase family

Gene Aliases

HGNC Name

alpha kinase 3

HGNC Alias Symbols

KIAA1330; Midori

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_020778.5
p.E1079K
c.3235G>A
Surrounding Variants
1 paper
NM_020778.5
p.D1077_E1078delFs
c.3231_3232delCG
1 paper
NM_020778.5
p.D1077insFs
c.3230dupA
1 paper
NM_020778.5
p.D1077fs
c.3229_3230fs
1 paper
NM_020778.5
p.A1084_E1092delFs
c.3251_3276del26
1 paper
NM_020778.5
p.S1068F
c.3203C>T
1 paper
NM_020778.5
p.G1091delFs
c.3272delG
1 paper
NM_020778.5
p.G1091fs
c.3271_3272fs
1 paper
NM_020778.5
p.E1094K
c.3280G>A
1 paper
NM_020778.5
p.E1094Q
c.3280G>C
2 papers
NM_020778.5
p.W1062*
c.3186G>A
2 papers
NM_020778.5
p.W1062*
c.3185G>A
1 paper
NM_020778.5
p.P1097_E1098delins
c.3290_3292delinsTTT
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