Varaico: Literature-Extracted Genetic Variants

Gene:GEMIN4
Variant:p.H173Q

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.H173Q
c.519C>G
Surrounding Variants
1 paper
NM_015721.3
p.H173Q
c.519C>A
1 paper
NM_015721.3
p.E166Q
c.496G>C
1 paper
NM_015721.3
p.F182L
c.544T>C
1 paper
NM_015721.3
p.F182L
c.546T>G
2 papers
NM_015721.3
p.F182L
c.546T>A
1 paper
NM_015721.3
p.D162D
c.486C>T
2 papers
NM_015721.3
p.V157L
c.469G>C
3 papers
NM_015721.3
p.V157M
c.469G>A
1 paper
NM_015721.3
p.P191S
c.571C>T
1 paper
NM_015721.3
p.P191A
c.571C>G
1 paper
NM_015721.3
p.D156H
c.466G>C
1 paper
NM_015721.3
p.D156N
c.466G>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."