Varaico: Literature-Extracted Genetic Variants

Gene:GOLPH3
Variant:p.S8delFs

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
3 papers
NM_022130.4
p.S8delFs
c.23delC
Surrounding Variants
1 paper
NM_022130.4
p.S9_G10insA
c.25_29ins3
1 paper
NM_022130.4
p.S9T
c.25T>A
1 paper
NM_022130.4
p.S8T
c.23G>C
1 paper
NM_022130.4
p.S9S
c.27C>A
1 paper
NM_022130.4
p.G10C
c.28G>T
1 paper
NM_022130.4
p.G10A
c.29G>C
1 paper
NM_022130.4
p.Q6K
c.16C>A
1 paper
NM_022130.4
p.V12L
c.34G>C
1 paper
NM_022130.4
p.T5A
c.13A>G
2 papers
NM_022130.4
p.L11_V12insFs
c.33_34ins4
2 papers
NM_022130.4
p.L4Q
c.11T>A
1 paper
NM_022130.4
p.Q13insFs
c.37_38insA
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