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

5 papers

NM_000516.7

p.M386L

c.1156A>C

Surrounding Variants

12 papers

NM_000516.7

p.R385H

c.1154G>A

1 paper

NM_000516.7

p.H387_L388insC

c.1159_1163ins3

4 papers

NM_001309840.2

p.R326C

c.976C>T

NM_000516.7

p.R385C

c.1153C>T

1 paper

NM_000516.7

p.L388delFs

c.1162delC

1 paper

NM_000516.7

p.Q384P

c.1151A>C

3 papers

NM_000516.7

p.Q384E

c.1150C>G

1 paper

NM_000516.7

p.Q384*

c.1150C>T

1 paper

NM_000516.7

p.L388delFs

c.1164delT

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.I383T

c.1148T>C

1 paper

NM_000516.7

p.I383fs

c.1147_1148fs