Varaico: Literature-Extracted Genetic Variants

Gene:SYF2
Variant:p.K84*

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
9 papers
NM_015484.5
p.K84*
c.250A>T
Surrounding Variants
1 paper
NM_015484.5
p.E81G
c.242A>G
1 paper
NM_015484.5
p.K86_E87Splc
c.258+1G>A
1 paper
NM_015484.5
p.K86_E87Splc
c.258+2T>C
1 paper
NM_015484.5
p.K80R
c.239A>G
1 paper
NM_015484.5
p.E78D
c.234A>C
1 paper
NM_015484.5
p.L75_E76del2
c.223_227del6
1 paper
NM_015484.5
p.E76E
c.228G>A
1 paper
NM_015484.5
p.K72insFs
c.215dupA
1 paper
NM_015484.5
p.P65P
c.195T>C
1 paper
NM_015484.5
p.L64V
c.190T>G
1 paper
NM_015484.5
p.K60N
c.180A>T
1 paper
NM_015484.5
p.K60N
c.180A>C
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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."