Varaico: Literature-Extracted Genetic Variants

Gene:GEMIN4
Variant:p.V553V

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.V553V
c.1659C>A
Surrounding Variants
1 paper
NM_015721.3
p.H556R
c.1667A>G
1 paper
NM_015721.3
p.A545fs
c.1633_1634fs
1 paper
NM_015721.3
p.A545delFs
c.1633delC
1 paper
NM_015721.3
p.K544T
c.1631A>C
1 paper
NM_015721.3
p.E539K
c.1615G>A
1 paper
NM_015721.3
p.L572R
c.1715T>G
3 papers
NM_015721.3
p.T529S
c.1586C>G
3 papers
NM_015721.3
p.T529S
c.1585A>T
1 paper
NM_015721.3
p.A579V
c.1736C>T
7 papers
NM_015721.3
p.A579G
c.1736C>G
3 papers
NM_015721.3
p.N527S
c.1580A>G
1 paper
NM_015721.3
p.N527T
c.1580A>C
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