Varaico: Literature-Extracted Genetic Variants

Gene:G6PC3
Variant:p.E339*

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.E339*
c.1015G>T
Surrounding Variants
1 paper
NM_138387.4
p.Q338*
c.1012C>T
1 paper
NM_138387.4
p.F335Fs
c.1003delinsGAFs
1 paper
NM_138387.4
p.M334T
c.1001T>C
4 papers
NM_138387.4
p.M334fs
c.1000_1001fs
5 papers
NM_138387.4
p.M334delFs
c.1000_1001delAT
1 paper
NM_138387.4
p.S346fs
c.1036_1037fs
9 papers
NM_138387.4
p.L325R
c.974T>G
1 paper
NM_138387.4
p.P321insFs
c.961_962insG
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.L319F
c.955C>T
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