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.A188P

c.562G>C

Surrounding Variants

1 paper

NM_000516.7

p.A188delFs

c.563delC

30 papers

NM_000516.7

p.D189_Y190delFs

c.565_568del4

NM_001077488.5

p.A188_D189delFs

c.563_566del4

1 paper

NM_000516.7

p.A188V

c.563C>T

1 paper

NM_000516.7

p.Q187H

c.561G>C

1 paper

NM_000516.7

p.Q187L

c.560A>T

1 paper

NM_000516.7

p.Q187K

c.559C>A

6 papers

NM_000516.7

p.Q187*

c.559C>T

10 papers

NM_000516.7

p.D189fs

c.565_566fs

NM_001077488.5

p.D190fs

c.568_569fs

1 paper

NM_000516.7

p.D189_P192delFs

c.567_574del8

2 papers

NM_000516.7

p.Y190insFs

c.568dupT

4 papers

NM_000516.7

p.Y190delFs

c.569_570delAT

10 papers

NM_000516.7

p.Y190_V191delFs

c.568_571del4