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.A351_C359insFs

c.1053_1077dup25

Surrounding Variants

1 paper

NM_000516.7

p.S349N

c.1046G>A

5 papers

NM_000516.7

p.I348_S349insC

c.1042_1046ins3

1 paper

NM_000516.7

p.I348F

c.1042A>T

1 paper

NM_000516.7

p.R347S

c.1041G>C

1 paper

NM_000516.7

p.R347S

c.1041G>T

2 papers

NM_000516.7

p.R347T

c.1040G>C

1 paper

NM_000516.7

p.R347M

c.1040G>T

3 papers

NM_000516.7

p.R347_I348insC

c.1039_1043ins3

2 papers

NM_000516.7

p.R347fs

c.1039_1040fs

2 papers

NM_000516.7

p.L346_R347Splc

c.1039-1G>A

2 papers

NM_000516.7

p.L346_R347Splc

c.1039-1G>C

1 paper

NM_000516.7

p.R347_R356del10

c.1039_1067del30