Varaico: Literature-Extracted Genetic Variants

Gene:GEMIN4
Variant:p.Q61R

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
1 paper
NM_015721.3
p.Q61R
c.182A>G
Surrounding Variants
1 paper
NM_015721.3
p.P62A
c.184C>G
1 paper
NM_015721.3
p.S60A
c.178T>G
1 paper
NM_015721.3
p.A49_A56del0
c.147_167del21
1 paper
NM_015721.3
p.K67E
c.199A>G
1 paper
NM_015721.3
p.K67M
c.200A>T
1 paper
NM_015721.3
p.E52D
c.156G>C
1 paper
NM_015721.3
p.L70P
c.209T>C
1 paper
NM_015721.3
p.E52G
c.155A>G
1 paper
NM_015721.3
p.I71fs
c.211_212fs
1 paper
NM_015721.3
p.I71delFs
c.212delA
1 paper
NM_015721.3
p.L50S
c.149T>C
1 paper
NM_015721.3
p.L50I
c.148T>A
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