Varaico: Literature-Extracted Genetic Variants

Gene:HYCC1
Variant:p.A91T

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.A91T
c.271G>A
Surrounding Variants
1 paper
NM_032581.4
p.S92fs
c.274_275fs
1 paper
NM_032581.4
p.S92G
c.274A>G
1 paper
NM_032581.4
p.A88S
c.262G>T
1 paper
NM_032581.4
p.V95M
c.283G>A
1 paper
NM_032581.4
p.V95A
c.284T>C
1 paper
NM_032581.4
p.Y86C
c.257A>G
1 paper
NM_032581.4
p.H96Y
c.286C>T
1 paper
NM_032581.4
p.C85Y
c.254G>A
1 paper
NM_032581.4
p.S98R
c.292A>C
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.L82L
c.246A>T
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