Varaico: Literature-Extracted Genetic Variants

Gene:HYCC1
Variant:p.Y64C

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.Y64C
c.191A>G
Surrounding Variants
1 paper
NM_032581.4
p.R65C
c.193C>T
1 paper
NM_032581.4
p.R65H
c.194G>A
1 paper
NM_032581.4
p.E62V
c.185A>T
2 papers
NM_032581.4
p.L60P
c.179T>C
1 paper
NM_032581.4
p.L60I
c.178C>A
1 paper
NM_032581.4
p.C57S
c.170G>C
5 papers
NM_032581.4
p.C57R
c.169T>C
1 paper
NM_032581.4
p.C57S
c.169T>A
1 paper
NM_032581.4
p.P55R
c.164C>G
1 paper
NM_032581.4
p.P55fs
c.163_164fs
1 paper
NM_032581.4
p.F74L
c.220T>C
1 paper
NM_032581.4
p.E54_P55insFs
c.162_163insGA
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