Varaico: Literature-Extracted Genetic Variants

Gene:GEMIN4
Variant:p.L193L

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.L193L
c.579A>G
Surrounding Variants
1 paper
NM_015721.3
p.L193S
c.578T>C
1 paper
NM_015721.3
p.L193*
c.578T>A
1 paper
NM_015721.3
p.E195A
c.584A>C
1 paper
NM_015721.3
p.P191S
c.571C>T
1 paper
NM_015721.3
p.P191A
c.571C>G
1 paper
NM_015721.3
p.P200A
c.598C>G
1 paper
NM_015721.3
p.K201N
c.603G>T
1 paper
NM_015721.3
p.K201N
c.603G>C
1 paper
NM_015721.3
p.F182L
c.546T>G
2 papers
NM_015721.3
p.F182L
c.546T>A
1 paper
NM_015721.3
p.F182L
c.544T>C
1 paper
NM_015721.3
p.D206H
c.616G>C
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