Varaico: Literature-Extracted Genetic Variants

Gene:G6PC1
Variant:p.I341N

G6PC1

382 papers

RefSeq Summary

Glucose-6-phosphatase (G6Pase) is a multi-subunit integral membrane protein of the endoplasmic reticulum that is composed of a catalytic subunit and transporters for G6P, inorganic phosphate, and gluc...

Pfam Domains

PAP2aa 57–204UCSCPAP2 superfamily

Gene Aliases

HGNC Name

glucose-6-phosphatase catalytic subunit 1

HGNC Previous Symbol

G6PT

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
15 papers
NM_000151.4
p.I341N
c.1022T>A
Surrounding Variants
1 paper
NM_000151.4
p.V340L
c.1018G>C
1 paper
NM_000151.4
p.S339N
c.1016G>A
1 paper
NM_000151.4
p.V338I
c.1012G>A
16 papers
NM_000151.4
p.V338F
c.1012G>T
1 paper
NM_000151.4
p.L345P
c.1034T>C
9 papers
NM_000151.4
p.L345R
c.1034T>G
1 paper
NM_000151.4
p.L345L
c.1035C>A
69 papers
NM_000151.4
p.Q347*
c.1039C>T
1 paper
NM_000151.4
p.V348delFs
c.1042_1043delGT
1 paper
NM_000151.4
p.V348A
c.1043T>C
1 paper
NM_000151.4
p.P334delFs
c.1000_1001delCC
1 paper
NM_000151.4
p.G350delFs
c.1049delG
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