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.K186fs

c.556_557fs

Surrounding Variants

1 paper

NM_000516.7

p.I185M

c.555C>G

3 papers

NM_000516.7

p.I185I

c.555C>T

3 papers

NM_000516.7

p.I185delFs

c.555delC

1 paper

NM_000516.7

p.I185F

c.553A>T

2 papers

NM_000516.7

p.I185delFs

c.554delT

1 paper

NM_000516.7

p.Q187K

c.559C>A

6 papers

NM_000516.7

p.Q187*

c.559C>T

1 paper

NM_000516.7

p.Q187L

c.560A>T

1 paper

NM_000516.7

p.Q187H

c.561G>C

2 papers

NM_000516.7

p.V184M

c.550G>A

1 paper

NM_000516.7

p.A188P

c.562G>C

1 paper

NM_000516.7

p.A188delFs

c.563delC