Varaico: Literature-Extracted Genetic Variants

Gene:G6PC3
Variant:p.F309C

G6PC3

170 papers

RefSeq Summary

This gene encodes the catalytic subunit of glucose-6-phosphatase (G6Pase). G6Pase is located in the endoplasmic reticulum (ER) and catalyzes the hydrolysis of glucose-6-phosphate to glucose and phosph...

Pfam Domains

PAP2aa 1–80UCSCPAP2 superfamily
PAP2aa 53–195UCSCPAP2 superfamily

Gene Aliases

HGNC Name

glucose-6-phosphatase catalytic subunit 3

HGNC Alias Symbol

UGRP

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_138387.4
p.F309C
c.926T>G
Surrounding Variants
1 paper
NM_138387.4
p.Y310F
c.929A>T
7 papers
NM_138387.4
p.F312insFs
c.935dupT
8 papers
NM_138387.4
p.N313fs
c.937_938fs
2 papers
NM_138387.4
p.Q305fs
c.913_914fs
1 paper
NM_138387.4
p.Q305E
c.913C>G
2 papers
NM_138387.4
p.P304insFs
c.911dupC
1 paper
NM_138387.4
p.H302fs
c.904_905fs
1 paper
NM_138387.4
p.L319F
c.955C>T
1 paper
NM_138387.4
p.W320fs
c.958_959fs
1 paper
NM_138387.4
p.W320delFs
c.960delG
1 paper
NM_138387.4
p.W320fs
c.958_959fs
1 paper
NM_138387.4
p.P321insFs
c.961_962insG
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