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_001077488.5

p.M222T

c.665T>C

Surrounding Variants

1 paper

NM_000516.7

p.M221V

c.661A>G

1 paper

NM_000516.7

p.M221I

c.663G>A

1 paper

NM_000516.7

p.M221I

c.663G>C

1 paper

NM_000516.7

p.M221I

c.663G>T

1 paper

NM_000516.7

p.F222L

c.664T>C

1 paper

NM_000516.7

p.F222S

c.665T>C

1 paper

NM_000516.7

p.H220Splc

c.660-2A>G

1 paper

NM_000516.7

p.D223_W234ins4

c.667_702dup36

1 paper

NM_000516.7

p.D223N

c.667G>A

1 paper

NM_000516.7

p.D223Y

c.667G>T

1 paper

NM_000516.7

p.D223A

c.668A>C

1 paper

NM_000516.7

p.D223G

c.668A>G