Varaico: Literature-Extracted Genetic Variants

Gene:GEMIN4
Variant:p.R508*

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.R508*
c.1522C>T
Surrounding Variants
1 paper
NM_015721.3
p.R504H
c.1511G>A
1 paper
NM_015721.3
p.G501V
c.1502G>T
1 paper
NM_015721.3
p.G494S
c.1480G>A
1 paper
NM_015721.3
p.S491F
c.1472C>T
3 papers
NM_015721.3
p.N527S
c.1580A>G
1 paper
NM_015721.3
p.N527T
c.1580A>C
3 papers
NM_015721.3
p.T529S
c.1585A>T
3 papers
NM_015721.3
p.T529S
c.1586C>G
1 paper
NM_015721.3
p.I483T
c.1448T>C
1 paper
NM_015721.3
p.E539K
c.1615G>A
1 paper
NM_015721.3
p.I476F
c.1426A>T
1 paper
NM_015721.3
p.P472delFs
c.1415_1416delAG
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."