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.E370ins4

c.1108_1109ins12

Surrounding Variants

2 papers

NM_000516.7

p.E370_N371delFs

c.1110_1111delGA

1 paper

NM_000516.7

p.T369_E370delFs

c.1107_1108delTG

1 paper

NM_000516.7

p.N371_I383del13

c.1111_1148del39

1 paper

NM_000516.7

p.N371D

c.1111A>G

1 paper

NM_000516.7

p.N371fs

c.1111_1112fs

1 paper

NM_000516.7

p.T369delFs

c.1106_1107delCT

1 paper

NM_000516.7

p.T369fs

c.1105_1106fs

6 papers

NM_000516.7

p.N371S

c.1112A>G

1 paper

NM_000516.7

p.N371_I383del0

c.1113_1148del36

1 paper

NM_000516.7

p.D368G

c.1103A>G

4 papers

NM_000516.7

p.N371N

c.1113C>T

2 papers

NM_000516.7

p.D368N

c.1102G>A