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.R389fs

c.1165_1166fs

Surrounding Variants

1 paper

NM_000516.7

p.R389S

c.1165C>A

7 papers

NM_000516.7

p.R389G

c.1165C>G

3 papers

NM_000516.7

p.R389C

c.1165C>T

4 papers

NM_000516.7

p.L388P

c.1163T>C

10 papers

NM_000516.7

p.L388R

c.1163T>G

1 paper

NM_000516.7

p.L388delFs

c.1164delT

1 paper

NM_000516.7

p.L388delFs

c.1162delC

1 paper

NM_000516.7

p.H387_L388insC

c.1159_1163ins3

9 papers

NM_000516.7

p.Y391*

c.1173C>A

9 papers

NM_000516.7

p.Y391*

c.1173C>G

5 papers

NM_000516.7

p.M386L

c.1156A>C

13 papers

NM_000516.7

p.E392K

c.1174G>A