Varaico: Literature-Extracted Genetic Variants

Gene:GOLM1
Variant:p.H217R

GOLM1

38 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 type II Golgi transmembrane protein. It pr...

Gene Aliases

HGNC Name

golgi membrane protein 1

HGNC Previous Symbols

GOLPH2; C9orf155

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_016548.4
p.H217R
c.650A>G
Surrounding Variants
1 paper
NM_016548.4
p.S239_S240delFs
c.717_720del4
1 paper
NM_016548.4
p.V250A
c.749T>C
1 paper
NM_016548.4
p.G292A
c.875G>C
1 paper
NM_016548.4
p.Q301*
c.901C>T
4 papers
NM_016548.4
p.S307L
c.920C>T
1 paper
NM_016548.4
p.G317D
c.950G>A
1 paper
NM_016548.4
p.D327D
c.981C>T
1 paper
NM_016548.4
p.E331K
c.991G>A
1 paper
NM_016548.4
p.E359K
c.1075G>A
1 paper
NM_016548.4
p.A367T
c.1099G>A
1 paper
NM_016548.4
p.G370E
c.1109G>A
1 paper
NM_016548.4
p.N194D
c.580A>G
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