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.R374H

c.1121G>A

Surrounding Variants

2 papers

NM_000516.7

p.R374S

c.1120C>A

13 papers

NM_000516.7

p.R374C

c.1120C>T

1 paper

NM_000516.7

p.R374_M386del0

c.1121_1156del36

1 paper

NM_000516.7

p.R373_R374ins12

c.1119_1120ins36

2 papers

NM_000516.7

p.V375L

c.1123G>C

2 papers

NM_000516.7

p.V375L

c.1123G>T

1 paper

NM_000516.7

p.R373S

c.1117C>A

1 paper

NM_000516.7

p.R373C

c.1117C>T

2 papers

NM_000516.7

p.R373fs

c.1117_1118fs

1 paper

NM_000516.7

p.V375V

c.1125G>T

1 paper

NM_000516.7

p.R374_R385del0

c.1120_1155del36

2 papers

NM_000516.7

p.F376L

c.1126T>C