Varaico: Literature-Extracted Genetic Variants

Gene:GEMIN4
Variant:p.R1033C

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.R1033C
c.3097C>T
Surrounding Variants
1 paper
NM_015721.3
p.A1029A
c.3087A>T
1 paper
NM_015721.3
p.L1026P
c.3077T>C
1 paper
NM_015721.3
p.S1023R
c.3069C>G
1 paper
NM_015721.3
p.S1023R
c.3069C>A
1 paper
NM_015721.3
p.I1042I
c.3126C>T
1 paper
NM_015721.3
p.S1023R
c.3067A>C
1 paper
NM_015721.3
p.L1015F
c.3045G>T
2 papers
NM_015721.3
p.L1015F
c.3045G>C
1 paper
NM_015721.3
p.T1014S
c.3041C>G
1 paper
NM_015721.3
p.T1014S
c.3040A>T
1 paper
NM_015721.3
p.E1013D
c.3039G>T
1 paper
NM_015721.3
p.E1013D
c.3039G>C
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