Varaico: Literature-Extracted Genetic Variants

Gene:GEMIN4
Variant:p.A579G

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
7 papers
NM_015721.3
p.A579G
c.1736C>G
Surrounding Variants
1 paper
NM_015721.3
p.A579V
c.1736C>T
1 paper
NM_015721.3
p.Q580P
c.1739A>C
1 paper
NM_015721.3
p.L582F
c.1744C>T
1 paper
NM_015721.3
p.L582L
c.1746C>G
1 paper
NM_015721.3
p.L572R
c.1715T>G
1 paper
NM_015721.3
p.E592K
c.1774G>A
5 papers
NM_015721.3
p.E593V
c.1778A>T
1 paper
NM_015721.3
p.E593D
c.1779G>T
1 paper
NM_015721.3
p.E593D
c.1779G>C
1 paper
NM_015721.3
p.T601I
c.1802C>T
1 paper
NM_015721.3
p.H556R
c.1667A>G
1 paper
NM_015721.3
p.V553V
c.1659C>A
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