Varaico: Literature-Extracted Genetic Variants

Gene:SYF2

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
1–12 of 82 variants
9 papers
NM_015484.5
p.K84*
c.250A>T
9 papers
NM_015484.5
p.D194N
c.580G>A
9 papers
NM_015484.5
p.T230P
c.688A>C
2 papers
NM_015484.5
p.M1V
c.1A>G
2 papers
NM_015484.5
p.A89V
c.266C>T
2 papers
NM_015484.5
p.A128G
c.383C>G
1 paper
NM_015484.5
p.M1L
c.1A>T
1 paper
NM_015484.5
p.M1L
c.1A>C
1 paper
NM_015484.5
p.M1T
c.2T>C
1 paper
NM_015484.5
p.M1insFs
c.2dupT
1 paper
NM_015484.5
p.M1insFs
c.1_2dupAT
1 paper
NM_015484.5
p.M1insFs
c.3dupG
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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."