Varaico: Literature-Extracted Genetic Variants

Gene:GNAS
Variant:p.K233E

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.K233E
c.697A>G
Surrounding Variants
1 paper
NM_000516.7
p.R232H
c.695G>A
2 papers
NM_000516.7
p.K233N
c.699G>C
2 papers
NM_000516.7
p.K233N
c.699G>T
1 paper
NM_000516.7
p.R232S
c.694C>A
2 papers
NM_000516.7
p.R232C
c.694C>T
2 papers
NM_000516.7
p.W234R
c.700T>A
3 papers
NM_000516.7
p.W234R
c.700T>C
3 papers
NM_000516.7
p.W234*
c.701G>A
2 papers
NM_000516.7
p.W234L
c.701G>T
20 papers
NM_000516.7
p.R231H
c.692G>A
3 papers
NM_000516.7
p.W234*
c.702G>A
2 papers
NM_000516.7
p.W234C
c.702G>C
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