Varaico: Literature-Extracted Genetic Variants

Gene:GEMIN4
Variant:p.E329Q

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.E329Q
c.985G>C
Surrounding Variants
2 papers
NM_015721.3
p.W327S
c.980G>C
1 paper
NM_015721.3
p.L331M
c.991T>A
1 paper
NM_015721.3
p.E330_L331del1
c.989_991delACT
1 paper
NM_015721.3
p.R325Q
c.974G>A
1 paper
NM_015721.3
p.R325W
c.973C>T
1 paper
NM_015721.3
p.L323L
c.967C>T
1 paper
NM_015721.3
p.R336C
c.1006C>T
1 paper
NM_015721.3
p.L320P
c.959T>C
1 paper
NM_015721.3
p.S338R
c.1012A>C
1 paper
NM_015721.3
p.G316A
c.947G>C
1 paper
NM_015721.3
p.L348P
c.1043T>C
1 paper
NM_015721.3
p.D350N
c.1048G>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."