Varaico: Literature-Extracted Genetic Variants

Gene:GEMIN4
Variant:p.Q450E

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
5 papers
NM_015721.3
p.Q450E
c.1348C>G
Surrounding Variants
1 paper
NM_015721.3
p.P451T
c.1351C>A
1 paper
NM_015721.3
p.A446T
c.1336G>A
1 paper
NM_015721.3
p.E459G
c.1376A>G
1 paper
NM_015721.3
p.A439V
c.1316C>T
1 paper
NM_015721.3
p.A439G
c.1316C>G
3 papers
NM_015721.3
p.A439S
c.1315G>T
1 paper
NM_015721.3
p.A439P
c.1315G>C
1 paper
NM_015721.3
p.A439T
c.1315G>A
1 paper
NM_015721.3
p.P472fs
c.1414_1415fs
1 paper
NM_015721.3
p.P472L
c.1415C>T
1 paper
NM_015721.3
p.P472delFs
c.1415_1416delAG
1 paper
NM_015721.3
p.I476F
c.1426A>T
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