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

3 papers

NM_000516.7

p.H357L

c.1070A>T

Surrounding Variants

1 paper

NM_000516.7

p.H357Y

c.1069C>T

4 papers

NM_000516.7

p.R356H

c.1067G>A

1 paper

NM_000516.7

p.R356L

c.1067G>T

1 paper

NM_000516.7

p.R356fs

c.1066_1067fs

6 papers

NM_000516.7

p.R356C

c.1066C>T

1 paper

NM_000516.7

p.R356fs

c.1066_1067fs

2 papers

NM_000516.7

p.C359Y

c.1076G>A

1 paper

NM_000516.7

p.G355_R356delFs

c.1065_1068del4

1 paper

NM_000516.7

p.G355R

c.1063G>A

1 paper

NM_000516.7

p.G355R

c.1063G>C

1 paper

NM_000516.7

p.Y360fs

c.1078_1079fs

1 paper

NM_000516.7

p.P361insFs

c.1082dupC