KEGG VARIANT: 2778v2

VARIANT: 2778v2

Entry

2778v2 Variant

Name

GNAS inactivating mutation

Gene

GNAS GNAS complex locus [KO:K04632]

Organism

hsa_var Human gene variants (Homo sapiens)

Variation

mutation M1V
ClinVar: 15927
dbSNP: rs137854530

Variation

mutation Q12X
ClinVar: 209158
dbSNP: rs797045046

Variation

mutation L99P
ClinVar: 15931
dbSNP: rs137854531

Variation

mutation A102V
ClinVar: 430510
dbSNP: rs1131691999

Variation

mutation R165C
ClinVar: 15932
dbSNP: rs137854532

Variation

mutation R231H
ClinVar: 15946
dbSNP: rs137854538

Variation

mutation R258W
ClinVar: 15941
dbSNP: rs137854535

Variation

mutation S250R
ClinVar: 15939
dbSNP: rs137854534

Variation

mutation A366S
ClinVar: 15944
dbSNP: rs137854537

Network

nt06318 CaSR-PTH signaling

Element

Mutation-inactivated GNAS to PTH-PTH1R-PKA signaling pathway

Reference

Authors

Levine MA, Germain-Lee E, Jan de Beur S

Title

Genetic basis for resistance to parathyroid hormone.

Journal

Horm Res 60 Suppl 3:87-95 (2003)
DOI:10.1159/000074508

LinkDB

DBGET integrated database retrieval system