Varaico: Literature-Extracted Genetic Variants

Gene:HYCC1
Variant:p.M237T

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.M237T
c.710T>C
Surrounding Variants
1 paper
NM_032581.4
p.M237V
c.709A>G
1 paper
NM_032581.4
p.S234*
c.701C>G
1 paper
NM_032581.4
p.S234*
c.701C>A
1 paper
NM_032581.4
p.L241*
c.722T>G
1 paper
NM_032581.4
p.L241*
c.722T>A
1 paper
NM_032581.4
p.G243E
c.728G>A
1 paper
NM_032581.4
p.I244F
c.730A>T
1 paper
NM_032581.4
p.Y245N
c.733T>A
1 paper
NM_032581.4
p.I226M
c.678A>G
1 paper
NM_032581.4
p.G225V
c.674G>T
1 paper
NM_032581.4
p.K224E
c.670A>G
1 paper
NM_032581.4
p.Q218E
c.652C>G
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