Varaico: Literature-Extracted Genetic Variants

Gene:GEMIN4
Variant:p.K76E

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.K76E
c.226A>G
Surrounding Variants
1 paper
NM_015721.3
p.K76R
c.227A>G
1 paper
NM_015721.3
p.A75V
c.224C>T
1 paper
NM_015721.3
p.L78P
c.233T>C
1 paper
NM_015721.3
p.P80fs
c.238_239fs
1 paper
NM_015721.3
p.I71delFs
c.212delA
1 paper
NM_015721.3
p.I71fs
c.211_212fs
1 paper
NM_015721.3
p.L70P
c.209T>C
1 paper
NM_015721.3
p.K67M
c.200A>T
1 paper
NM_015721.3
p.P85A
c.253C>G
1 paper
NM_015721.3
p.K67E
c.199A>G
1 paper
NM_015721.3
p.P85L
c.254C>T
1 paper
NM_015721.3
p.S86F
c.257C>T
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