Varaico: Literature-Extracted Genetic Variants

Gene:GEMIN4
Variant:p.R229W

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.R229W
c.685C>T
Surrounding Variants
1 paper
NM_015721.3
p.L231Q
c.692T>A
1 paper
NM_015721.3
p.G232D
c.695G>A
1 paper
NM_015721.3
p.P233S
c.697C>T
1 paper
NM_015721.3
p.P233Q
c.698C>A
1 paper
NM_015721.3
p.G234E
c.701G>A
1 paper
NM_015721.3
p.L220F
c.658C>T
1 paper
NM_015721.3
p.C238Y
c.713G>A
1 paper
NM_015721.3
p.M218V
c.652A>G
1 paper
NM_015721.3
p.M213I
c.639G>T
1 paper
NM_015721.3
p.M213I
c.639G>C
1 paper
NM_015721.3
p.M213I
c.639G>A
1 paper
NM_015721.3
p.P211A
c.631C>G
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