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.G206E

c.617G>A

Surrounding Variants

1 paper

NM_000516.7

p.G206delFs

c.617_618delGA

3 papers

NM_000516.7

p.G206fs

c.616_617fs

1 paper

NM_000516.7

p.S205Y

c.614C>A

3 papers

NM_000516.7

p.F208insFs

c.624dupT

1 paper

NM_000516.7

p.F208insFs

c.623_624dupTT

1 paper

NM_000516.7

p.F208delFs

c.623delT

2 papers

NM_000516.7

p.T204N

c.611C>A

1 paper

NM_001077488.5

p.T205I

c.614C>T

1 paper

NM_000516.7

p.F208Y

c.623T>A

1 paper

NM_000516.7

p.F208S

c.623T>C

2 papers

NM_000516.7

p.T204A

c.610A>G

1 paper

NM_000516.7

p.E209fs

c.625_626fs