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

2 papers

NM_000516.7

p.I372T

c.1115T>C

Surrounding Variants

2 papers

NM_000516.7

p.R373delFs

c.1117delC

1 paper

NM_000516.7

p.R374_R385del0

c.1120_1155del36

1 paper

NM_000516.7

p.R373S

c.1117C>A

4 papers

NM_000516.7

p.N371N

c.1113C>T

1 paper

NM_000516.7

p.R373C

c.1117C>T

2 papers

NM_000516.7

p.R373fs

c.1117_1118fs

6 papers

NM_000516.7

p.N371S

c.1112A>G

1 paper

NM_000516.7

p.N371_I383del0

c.1113_1148del36

1 paper

NM_000516.7

p.N371D

c.1111A>G

1 paper

NM_000516.7

p.N371fs

c.1111_1112fs

1 paper

NM_000516.7

p.R373_R374ins12

c.1119_1120ins36

2 papers

NM_000516.7

p.R374S

c.1120C>A