Varaico: Literature-Extracted Genetic Variants

Gene:HYCC1
Variant:p.I127T

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.I127T
c.380T>C
Surrounding Variants
1 paper
NM_032581.4
p.I127F
c.379A>T
1 paper
NM_032581.4
p.T126M
c.377C>T
1 paper
NM_032581.4
p.T126S
c.376A>T
1 paper
NM_032581.4
p.S124T
c.371G>C
1 paper
NM_032581.4
p.L123F
c.369G>T
1 paper
NM_032581.4
p.L123F
c.369G>C
1 paper
NM_032581.4
p.H119R
c.356A>G
2 papers
NM_032581.4
p.H119Y
c.355C>T
3 papers
NM_032581.4
p.E138_P139Splc
c.414+1G>T
1 paper
NM_032581.4
p.E138_P139Splc
c.414+1G>A
1 paper
NM_032581.4
p.D115E
c.345C>G
1 paper
NM_032581.4
p.D115E
c.345C>A
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