Varaico: Literature-Extracted Genetic Variants

Gene:SYF2
Variant:p.Q189Splc

SYF2

124 papers

RefSeq Summary

This gene encodes a nuclear protein that interacts with cyclin D-type binding-protein 1, which is thought to be a cell cycle regulator at the G1/S transition. Alternate transcriptional splice variants...

Pfam Domains

SYF2aa 90–238UCSCSYF2 splicing factor

Gene Aliases

HGNC Name

SYF2 pre-mRNA splicing factor

HGNC Previous Symbol

CBPIN

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_015484.5
p.Q189Splc
c.566+5G>A
Surrounding Variants
1 paper
NM_015484.5
p.Q189Splc
c.566+1G>A
1 paper
NM_015484.5
p.D185G
c.554A>G
1 paper
NM_015484.5
p.E177fs
c.529_530fs
1 paper
NM_015484.5
p.V173_P174insA
c.517_521ins3
1 paper
NM_015484.5
p.G170A
c.509G>C
1 paper
NM_015484.5
p.G157_F160del4
c.469_479del12
1 paper
NM_015484.5
p.H156L
c.467A>T
1 paper
NM_015484.5
p.Q189Splc
c.567-2A>T
1 paper
NM_015484.5
p.I190F
c.568A>T
9 papers
NM_015484.5
p.D194N
c.580G>A
1 paper
NM_015484.5
p.K195I
c.584A>T
1 paper
NM_015484.5
p.R214delFs
c.642delC
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."