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

4 papers

NM_000516.7

p.L203P

c.608T>C

Surrounding Variants

1 paper

NM_000516.7

p.L203V

c.607C>G

2 papers

NM_000516.7

p.T204A

c.610A>G

2 papers

NM_000516.7

p.T204N

c.611C>A

1 paper

NM_001077488.5

p.T205I

c.614C>T

1 paper

NM_000516.7

p.V202I

c.604G>A

1 paper

NM_000516.7

p.V202_I207delFs

c.605_621del17

1 paper

NM_000516.7

p.R201R

c.603T>C

1 paper

NM_000516.7

p.S205Y

c.614C>A

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

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