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.C379R

c.1135T>C

Surrounding Variants

1 paper

NM_000516.7

p.C379F

c.1136G>T

1 paper

NM_000516.7

p.D378N

c.1132G>A

1 paper

NM_000516.7

p.D381delFs

c.1141delG

2 papers

NM_001077488.5

p.N378fs

c.1132_1133fs

NM_000516.7

p.N377fs

c.1129_1130fs

1 paper

NM_000516.7

p.D381fs

c.1141_1142fs

2 papers

NM_000516.7

p.I382del1

c.1144_1145delATC

2 papers

NM_000516.7

p.F376L

c.1128C>A

2 papers

NM_000516.7

p.F376L

c.1128C>G

1 paper

NM_000516.7

p.N377delFs

c.1130delA

2 papers

NM_000516.7

p.F376Y

c.1127T>A

1 paper

NM_001077488.5

p.F377_N378insFs

c.1131_1132insC

1 paper

NM_000516.7

p.N377del1

c.1129_1130delAAC