Varaico: Literature-Extracted Genetic Variants

Gene:GEMIN4
Variant:p.L96V

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
3 papers
NM_015721.3
p.L96V
c.286C>G
Surrounding Variants
1 paper
NM_015721.3
p.D95A
c.284A>C
1 paper
NM_015721.3
p.F97L
c.291C>A
1 paper
NM_015721.3
p.E94A
c.281A>C
1 paper
NM_015721.3
p.S99_V100insT
c.295_299ins3
4 papers
NM_015721.3
p.Q93*
c.277C>T
1 paper
NM_015721.3
p.S99L
c.296C>T
2 papers
NM_015721.3
p.V100M
c.298G>A
1 paper
NM_015721.3
p.E89D
c.267G>C
5 papers
NM_015721.3
p.P105L
c.314C>T
1 paper
NM_015721.3
p.S86S
c.258C>T
1 paper
NM_015721.3
p.S86F
c.257C>T
1 paper
NM_015721.3
p.P85L
c.254C>T
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