Varaico: Literature-Extracted Genetic Variants

Gene:HYCC1
Variant:p.R177W

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.R177W
c.529C>T
Surrounding Variants
1 paper
NM_032581.4
p.R177Q
c.530G>A
1 paper
NM_032581.4
p.V180A
c.539T>C
1 paper
NM_032581.4
p.L186F
c.558G>T
1 paper
NM_032581.4
p.L186F
c.558G>C
1 paper
NM_032581.4
p.C187S
c.559T>A
1 paper
NM_032581.4
p.C187S
c.560G>C
1 paper
NM_032581.4
p.Y188C
c.563A>G
1 paper
NM_032581.4
p.N189S
c.566A>G
1 paper
NM_032581.4
p.A190V
c.569C>T
1 paper
NM_032581.4
p.T193S
c.577A>T
1 paper
NM_032581.4
p.T193P
c.577A>C
1 paper
NM_032581.4
p.T193S
c.578C>G
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