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

1–12 of 1240 variants

587 papers

NM_000516.7

p.R201H

c.602G>A

569 papers

NM_000516.7

p.R201C

c.601C>T

121 papers

NM_000516.7

p.R201S

c.601C>A

85 papers

NM_000516.7

p.Q227L

c.680A>T

65 papers

NM_000516.7

p.Q227R

c.680A>G

59 papers

NM_000516.7

p.Q227H

c.681G>T

58 papers

NM_000516.7

p.Q227H

c.681G>C

41 papers

NM_000516.7

p.R201G

c.601C>G

39 papers

NM_000516.7

p.R201L

c.602G>T

29 papers

NM_000516.7

p.A366S

c.1096G>T

27 papers

NM_000516.7

p.D189_Y190delFs

c.565_568del4

27 papers

NM_000516.7

p.Q227K

c.679C>A