Varaico: Literature-Extracted Genetic Variants

Gene:GEMIN4
Variant:p.T35T

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.T35T
c.105A>G
Surrounding Variants
1 paper
NM_015721.3
p.T35T
c.105A>C
2 papers
NM_015721.3
p.S37A
c.109T>G
1 paper
NM_015721.3
p.S37C
c.110C>G
1 paper
NM_015721.3
p.E33_L34insFs
c.99_100insT
1 paper
NM_015721.3
p.W39*
c.116G>A
1 paper
NM_015721.3
p.L31L
c.93G>A
1 paper
NM_015721.3
p.L31V
c.91C>G
1 paper
NM_015721.3
p.L31M
c.91C>A
1 paper
NM_015721.3
p.K29R
c.86A>G
1 paper
NM_015721.3
p.E40_R41del2
c.118_122del6
1 paper
NM_015721.3
p.R44W
c.130C>T
1 paper
NM_015721.3
p.V47M
c.139G>A
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