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.N218K

c.654C>G

Surrounding Variants

1 paper

NM_000516.7

p.N218K

c.654C>A

1 paper

NM_000516.7

p.F219delFs

c.655_656delTT

1 paper

NM_001077488.5

p.F220S

c.659T>C

1 paper

NM_000516.7

p.F219L

c.657C>A

1 paper

NM_000516.7

p.V217G

c.650T>G

2 papers

NM_000516.7

p.H220R

c.659A>G

1 paper

NM_000516.7

p.H220L

c.659A>T

1 paper

NM_000516.7

p.K216N

c.648A>C

1 paper

NM_000516.7

p.K216N

c.648A>T

3 papers

NM_000516.7

p.H220Splc

c.659+1G>A

1 paper

NM_000516.7

p.H220Splc

c.659+2T>G

2 papers

NM_000516.7

p.D215G

c.644A>G