Varaico: Literature-Extracted Genetic Variants

Gene:GEMIN4
Variant:p.P696T

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.P696T
c.2086C>A
Surrounding Variants
1 paper
NM_015721.3
p.S693P
c.2077T>C
1 paper
NM_015721.3
p.L705W
c.2114T>G
4 papers
NM_015721.3
p.R684Q
c.2051G>A
1 paper
NM_015721.3
p.C683W
c.2049C>G
1 paper
NM_015721.3
p.L714I
c.2140C>A
1 paper
NM_015721.3
p.K718N
c.2154G>T
1 paper
NM_015721.3
p.K718N
c.2154G>C
1 paper
NM_015721.3
p.R725W
c.2173A>T
1 paper
NM_015721.3
p.E665A
c.1994A>C
1 paper
NM_015721.3
p.L728P
c.2183T>C
1 paper
NM_015721.3
p.L662L
c.1984T>C
1 paper
NM_015721.3
p.L657P
c.1970T>C
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