Varaico: Literature-Extracted Genetic Variants

Gene:HYCC1
Variant:p.E51_L52Splc

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.E51_L52Splc
c.153+1G>T
Surrounding Variants
1 paper
NM_032581.4
p.E51D
c.153G>C
1 paper
NM_032581.4
p.S50_E51insFs
c.150_151dupTG
1 paper
NM_032581.4
p.E51K
c.151G>A
1 paper
NM_032581.4
p.E51fs
c.151_152fs
1 paper
NM_032581.4
p.S50N
c.149G>A
1 paper
NM_032581.4
p.Q49L
c.146A>T
1 paper
NM_032581.4
p.P48S
c.142C>T
1 paper
NM_032581.4
p.V44A
c.131T>C
1 paper
NM_032581.4
p.V44I
c.130G>A
1 paper
NM_032581.4
p.Y42C
c.125A>G
1 paper
NM_032581.4
p.D33G
c.98A>G
1 paper
NM_032581.4
p.L31*
c.92T>A
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