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.Y360fs

c.1078_1079fs

Surrounding Variants

1 paper

NM_000516.7

p.P361insFs

c.1082dupC

1 paper

NM_080425.4

p.Y1003_P1004ins1

c.3009_3010insATT

2 papers

NM_000516.7

p.C359Y

c.1076G>A

1 paper

NM_000516.7

p.P361R

c.1082C>G

4 papers

NM_000516.7

p.P361_H362insFs

c.1083_1084insC

1 paper

NM_000516.7

p.H362fs

c.1084_1085fs

2 papers

NM_000516.7

p.H362P

c.1085A>C

3 papers

NM_000516.7

p.H357L

c.1070A>T

1 paper

NM_000516.7

p.H362Q

c.1086T>A

1 paper

NM_000516.7

p.H362Q

c.1086T>G

1 paper

NM_000516.7

p.H357Y

c.1069C>T

4 papers

NM_000516.7

p.R356H

c.1067G>A