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

3 papers

NM_000516.7

p.A366T

c.1096G>A

NM_001077488.5

p.A367T

c.1099G>A

Surrounding Variants

1 paper

NM_000516.7

p.A366insFs

c.1096_1097insC

29 papers

NM_000516.7

p.A366S

c.1096G>T

1 paper

NM_000516.7

p.A366_E370ins1

c.1097_1108dup12

1 paper

NM_000516.7

p.C365delFs

c.1093delT

3 papers

NM_000516.7

p.V367insFs

c.1100_1101insA

1 paper

NM_000516.7

p.T364N

c.1091C>A

1 paper

NM_000516.7

p.V367_D368insFs

c.1101_1102insA

2 papers

NM_000516.7

p.D368N

c.1102G>A

1 paper

NM_000516.7

p.D368fs

c.1102_1103fs

1 paper

NM_000516.7

p.D368G

c.1103A>G

1 paper

NM_000516.7

p.T369delFs

c.1106_1107delCT

1 paper

NM_000516.7

p.T369fs

c.1105_1106fs