Varaico: Literature-Extracted Genetic Variants

Gene:GOLPH3
Variant:p.R15S

GOLPH3

361 papers

RefSeq Summary

The Golgi complex plays a key role in the sorting and modification of proteins exported from the endoplasmic reticulum. The protein encoded by this gene is a peripheral membrane protein of the Golgi s...

Pfam Domains

GPP34aa 62–291UCSCGolgi phosphoprotein 3 (GPP34)

Gene Aliases

HGNC Name

golgi phosphoprotein 3

HGNC Alias Symbols

GPP34; GOPP1; MIDAS; Vps74

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_022130.4
p.R15S
c.43C>A
Surrounding Variants
1 paper
NM_022130.4
p.R14Q
c.41G>A
1 paper
NM_022130.4
p.R14W
c.40C>T
1 paper
NM_022130.4
p.T16T
c.48C>A
1 paper
NM_022130.4
p.E17K
c.49G>A
1 paper
NM_022130.4
p.Q13insFs
c.37_38insA
2 papers
NM_022130.4
p.L11_V12insFs
c.33_34ins4
1 paper
NM_022130.4
p.A18P
c.52G>C
1 paper
NM_022130.4
p.V12L
c.34G>C
1 paper
NM_022130.4
p.A18D
c.53C>A
1 paper
NM_022130.4
p.G10A
c.29G>C
1 paper
NM_022130.4
p.G10C
c.28G>T
1 paper
NM_022130.4
p.S9S
c.27C>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."