Varaico: Literature-Extracted Genetic Variants

Gene:HYCC1

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
1–12 of 180 variants
8 papers
NM_032581.4
p.L53P
c.158T>C
5 papers
NM_032581.4
p.C57R
c.169T>C
4 papers
NM_032581.4
p.S208S
c.624A>G
3 papers
NM_032581.4
p.E138_P139Splc
c.414+1G>T
3 papers
NM_032581.4
p.R217Q
c.650G>A
3 papers
NM_032581.4
p.G391R
c.1171G>C
3 papers
NM_032581.4
p.C401R
c.1201T>C
2 papers
NM_032581.4
p.E11K
c.31G>A
2 papers
NM_032581.4
p.L60P
c.179T>C
2 papers
NM_032581.4
p.Y64C
c.191A>G
2 papers
NM_032581.4
p.H119Y
c.355C>T
2 papers
NM_032581.4
p.I127T
c.380T>C
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