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.L179_V184del0

c.535_552del18

Surrounding Variants

2 papers

NM_000516.7

p.L179P

c.536T>C

1 paper

NM_000516.7

p.D180_I185del6

c.538_554del18

2 papers

NM_000516.7

p.D180N

c.538G>A

1 paper

NM_001077488.5

p.Y178Splc

c.534-1G>A

3 papers

NM_001077488.5

p.Y178Splc

c.534-1G>C

NM_000516.7

p.Y177Splc

c.531-1G>C

1 paper

NM_000516.7

p.Y177Splc

c.531-2A>G

1 paper

NM_000516.7

p.D180V

c.539A>T

2 papers

NM_000516.7

p.K181*

c.541A>T

1 paper

NM_000516.7

p.I182fs

c.544_545fs

1 paper

NM_000516.7

p.I182T

c.545T>C

4 papers

NM_000516.7

p.I182delFs

c.546delC

1 paper

NM_000516.7

p.D183N

c.547G>A