Varaico: Literature-Extracted Genetic Variants

Gene:GEMIN4

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
1–12 of 251 variants
8 papers
NM_015721.3
p.W818R
c.2452T>C
8 papers
NM_015721.3
p.W818R
c.2452T>A
8 papers
NM_015721.3
p.R1033C
c.3097C>T
7 papers
NM_015721.3
p.A579G
c.1736C>G
5 papers
NM_015721.3
p.P105L
c.314C>T
5 papers
NM_015721.3
p.L193L
c.579A>G
5 papers
NM_015721.3
p.Q450E
c.1348C>G
5 papers
NM_015721.3
p.E593V
c.1778A>T
4 papers
NM_015721.3
p.Q93*
c.277C>T
4 papers
NM_015721.3
p.R684Q
c.2051G>A
4 papers
NM_015721.3
p.D929N
c.2785G>A
3 papers
NM_015721.3
p.L96V
c.286C>G
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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."