Varaico: Literature-Extracted Genetic Variants

GNAS

1,872 papers

RefSeq Summary

This locus has a highly complex imprinted expression pattern. It gives rise to maternally, paternally, and biallelically expressed transcripts that are derived from four alternative promoters and 5' e...

Pfam Domains

NESP55aa 1–245UCSCNeuroendocrine-specific golgi protein P55 (NESP55)

G-alphaaa 1–324UCSCG-protein alpha subunit

G-alphaaa 20–84UCSCG-protein alpha subunit

G-alphaaa 663–1026UCSCG-protein alpha subunit

Gene Aliases

HGNC Name

GNAS complex locus

HGNC Previous Symbol

GNAS1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000516.7

p.Q227insFs

c.679dupC

Surrounding Variants

1 paper

NM_000516.7

p.G226D

c.677G>A

1 paper

NM_001309840.2

p.G167G

c.501C>G

3 papers

NM_000516.7

p.G226G

c.678C>T

1 paper

NM_000516.7

p.G226S

c.676G>A

27 papers

NM_000516.7

p.Q227K

c.679C>A

24 papers

NM_000516.7

p.Q227E

c.679C>G

4 papers

NM_000516.7

p.Q227*

c.679C>T

NM_001077488.5

p.Q228*

c.682C>T

1 paper

NM_000516.7

p.Q227fs

c.679_680fs

1 paper

NM_000516.7

p.G225G

c.675T>A

2 papers

NM_000516.7

p.Q227insFs

c.680_681insC

1 paper

NM_000516.7

p.Q227P

c.680A>C

65 papers

NM_000516.7

p.Q227R

c.680A>G