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.N239Y

c.715A>T

Surrounding Variants

3 papers

NM_000516.7

p.N239D

c.715A>G

1 paper

NM_000516.7

p.N239S

c.716A>G

1 paper

NM_000516.7

p.F238L

c.714C>A

1 paper

NM_001077488.5

p.F239C

c.716T>G

1 paper

NM_000516.7

p.D240N

c.718G>A

1 paper

NM_000516.7

p.D240Y

c.718G>T

2 papers

NM_000516.7

p.C237C

c.711C>T

2 papers

NM_000516.7

p.D240Splc

c.718+1G>A

1 paper

NM_000516.7

p.C237Y

c.710G>A

1 paper

NM_000516.7

p.Q236L

c.707A>T

1 paper

NM_000516.7

p.Q236E

c.706C>G

2 papers

NM_000516.7

p.Q236*

c.706C>T

NM_001077488.5

p.Q237*

c.709C>T