Varaico: Literature-Extracted Genetic Variants

Gene:GEMIN4
Variant:p.R928C

GEMIN4

420 papers

RefSeq Summary

The product of this gene is part of a large complex localized to the cytoplasm, nucleoli, and to discrete nuclear bodies called Gemini bodies (gems). The complex functions in spliceosomal snRNP assemb...

Pfam Domains

TPR_Edg1aa 390–919UCSCEdg1, TPR repeats

Gene Aliases

HGNC Name

gem nuclear organelle associated protein 4

HGNC Alias Symbols

HHRF-1; DKFZP434B131; p97; DKFZP434D174; HC56; HCAP1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_015721.3
p.R928C
c.2782C>T
Surrounding Variants
1 paper
NM_015721.3
p.D929Y
c.2785G>T
4 papers
NM_015721.3
p.D929N
c.2785G>A
1 paper
NM_015721.3
p.P932L
c.2795C>T
1 paper
NM_015721.3
p.H938R
c.2813A>G
1 paper
NM_015721.3
p.V913I
c.2737G>A
1 paper
NM_015721.3
p.T948I
c.2843C>T
1 paper
NM_015721.3
p.L899R
c.2696T>G
1 paper
NM_015721.3
p.V887F
c.2659G>T
1 paper
NM_015721.3
p.L971L
c.2913G>C
2 papers
NM_015721.3
p.H873Q
c.2619C>G
2 papers
NM_015721.3
p.H873Q
c.2619C>A
1 paper
NM_015721.3
p.R871H
c.2612G>A
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