Varaico: Literature-Extracted Genetic Variants

Gene:HYCC1
Variant:p.E11K

HYCC1

147 papers

RefSeq Summary

The protein encoded by this gene may play a part in the beta-catenin/Lef signaling pathway. Expression of this gene is down-regulated by beta-catenin. Defects in this gene are a cause of hypomyelinati...

Pfam Domains

Hyccinaa 22–330UCSCHyccin

Gene Aliases

HGNC Name

hyccin PI4KA lipid kinase complex subunit 1

HGNC Previous Symbol

FAM126A

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_032581.4
p.E11K
c.31G>A
Surrounding Variants
1 paper
NM_032581.4
p.E11G
c.32A>G
1 paper
NM_032581.4
p.L13V
c.37T>G
1 paper
NM_032581.4
p.L13*
c.38T>A
1 paper
NM_032581.4
p.L13F
c.39G>T
1 paper
NM_032581.4
p.L13F
c.39G>C
1 paper
NM_032581.4
p.V8I
c.22G>A
1 paper
NM_032581.4
p.F16Y
c.47T>A
1 paper
NM_032581.4
p.F16L
c.48T>A
1 paper
NM_032581.4
p.E5K
c.13G>A
1 paper
NM_032581.4
p.K17_T18Splc
c.51+1G>A
1 paper
NM_032581.4
p.F2L
c.6T>G
1 paper
NM_032581.4
p.T18T
c.54A>C
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