Varaico: Literature-Extracted Genetic Variants

Gene:GEMIN4
Variant:p.W818R

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
8 papers
NM_015721.3
p.W818R
c.2452T>C
Surrounding Variants
8 papers
NM_015721.3
p.W818R
c.2452T>A
1 paper
NM_015721.3
p.L836S
c.2507T>C
1 paper
NM_015721.3
p.L796P
c.2387T>C
1 paper
NM_015721.3
p.V840M
c.2518G>A
1 paper
NM_015721.3
p.V786A
c.2357T>C
1 paper
NM_015721.3
p.R871H
c.2612G>A
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.I753M
c.2259C>G
1 paper
NM_015721.3
p.W752*
c.2256G>A
1 paper
NM_015721.3
p.W752*
c.2255G>A
1 paper
NM_015721.3
p.D750G
c.2249A>G
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