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

2 papers

NM_000516.7

p.C200R

c.598T>C

Surrounding Variants

1 paper

NM_000516.7

p.C200_R201ins1

c.600_601insGTG

1 paper

NM_000516.7

p.R201_E209del9

c.601_626del27

2 papers

NM_000516.7

p.R199H

c.596G>A

123 papers

NM_000516.7

p.R201S

c.601C>A

NM_001077488.5

p.R202S

c.604C>A

NM_080425.4

p.R844S

c.2530C>A

41 papers

NM_000516.7

p.R201G

c.601C>G

2 papers

NM_001077488.5

p.R200G

c.598C>G

NM_000516.7

p.R199G

c.595C>G

576 papers

NM_000516.7

p.R201C

c.601C>T

NM_001077489.4

p.R186C

c.556C>T

NM_080425.4

p.R844C

c.2530C>T

NM_001077488.5

p.R202C

c.604C>T

6 papers

NM_080425.4

p.R842C

c.2524C>T

NM_000516.7

p.R199C

c.595C>T

589 papers

NM_000516.7

p.R201H

c.602G>A

NM_080425.4

p.R844H

c.2531G>A

NM_001077488.5

p.R202H

c.605G>A

9 papers

NM_000516.7

p.R201P

c.602G>C

39 papers

NM_000516.7

p.R201L

c.602G>T

1 paper

NM_000516.7

p.L198P

c.593T>C