Varaico: Literature-Extracted Genetic Variants

Gene:HYCC1
Variant:p.S519P

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.S519P
c.1555T>C
Surrounding Variants
1 paper
NM_032581.4
p.S519F
c.1556C>T
1 paper
NM_032581.4
p.P512L
c.1535C>T
1 paper
NM_032581.4
p.Q508K
c.1522C>A
1 paper
NM_032581.4
p.A483P
c.1447G>C
1 paper
NM_032581.4
p.S467P
c.1399T>C
1 paper
NM_032581.4
p.P466P
c.1398G>A
1 paper
NM_032581.4
p.H464Y
c.1390C>T
1 paper
NM_032581.4
p.A447T
c.1339G>A
1 paper
NM_032581.4
p.R407Q
c.1220G>A
3 papers
NM_032581.4
p.C401R
c.1201T>C
3 papers
NM_032581.4
p.G391R
c.1171G>C
2 papers
NM_032581.4
p.G391R
c.1171G>A
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