Varaico: Literature-Extracted Genetic Variants

Gene:HYCC1
Variant:p.E102K

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
1 paper
NM_032581.4
p.E102K
c.304G>A
Surrounding Variants
1 paper
NM_032581.4
p.I101T
c.302T>C
1 paper
NM_032581.4
p.I101V
c.301A>G
1 paper
NM_032581.4
p.L105F
c.313C>T
1 paper
NM_032581.4
p.S98R
c.294T>G
1 paper
NM_032581.4
p.S98R
c.294T>A
1 paper
NM_032581.4
p.S98R
c.292A>C
1 paper
NM_032581.4
p.G107insFs
c.320_321insC
1 paper
NM_032581.4
p.V108F
c.322G>T
1 paper
NM_032581.4
p.V108L
c.322G>C
1 paper
NM_032581.4
p.H96Y
c.286C>T
1 paper
NM_032581.4
p.V95A
c.284T>C
1 paper
NM_032581.4
p.V95M
c.283G>A
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