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

65 papers

NM_000516.7

p.Q227R

c.680A>G

Surrounding Variants

2 papers

NM_000516.7

p.Q227insFs

c.680_681insC

1 paper

NM_000516.7

p.Q227P

c.680A>C

86 papers

NM_000516.7

p.Q227L

c.680A>T

NM_001077488.5

p.Q228L

c.683A>T

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

58 papers

NM_000516.7

p.Q227H

c.681G>C

59 papers

NM_000516.7

p.Q227H

c.681G>T

1 paper

NM_001309840.2

p.G167G

c.501C>G

7 papers

NM_000516.7

p.R228C

c.682C>T

3 papers

NM_000516.7

p.G226G

c.678C>T