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.L197P

c.590T>C

Surrounding Variants

2 papers

NM_000516.7

p.L197L

c.589C>T

1 paper

NM_000516.7

p.L198V

c.592C>G

2 papers

NM_000516.7

p.L198F

c.592C>T

1 paper

NM_000516.7

p.L198P

c.593T>C

4 papers

NM_000516.7

p.D196N

c.586G>A

2 papers

NM_001077488.5

p.R200G

c.598C>G

NM_000516.7

p.R199G

c.595C>G

6 papers

NM_080425.4

p.R842C

c.2524C>T

NM_000516.7

p.R199C

c.595C>T

1 paper

NM_000516.7

p.Q195_D196Splc

c.586-1G>A

1 paper

NM_000516.7

p.Q195_D196Splc

c.586-1G>T

1 paper

NM_000516.7

p.D196delFs

c.586delG

2 papers

NM_000516.7

p.R199H

c.596G>A

2 papers

NM_000516.7

p.C200R

c.598T>C