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.D194N

c.580G>A

Surrounding Variants

1 paper

NM_000516.7

p.D194delFs

c.581delA

1 paper

NM_000516.7

p.D194G

c.581A>G

2 papers

NM_000516.7

p.S193insFs

c.577_578insC

2 papers

NM_000516.7

p.Q195*

c.583C>T

2 papers

NM_000516.7

p.P192Q

c.575C>A

1 paper

NM_000516.7

p.P192R

c.575C>G

1 paper

NM_000516.7

p.P192L

c.575C>T

1 paper

NM_000516.7

p.P192S

c.574C>T

1 paper

NM_000516.7

p.Q195_D196Splc

c.585+1G>A

1 paper

NM_000516.7

p.Q195_D196Splc

c.585+1G>C

1 paper

NM_001309840.2

p.V132L

c.394G>C

1 paper

NM_000516.7

p.V191fs

c.571_572fs