Varaico: Literature-Extracted Genetic Variants

Gene:SRSF7

SRSF7

86 papers

RefSeq Summary

The protein encoded by this gene is a member of the serine/arginine (SR)-rich family of pre-mRNA splicing factors, which constitute part of the spliceosome. Each of these factors contains an N-termina...

Pfam Domains

RRM_1aa 13–78UCSCRNA recognition motif

Gene Aliases

HGNC Name

serine and arginine rich splicing factor 7

HGNC Previous Symbol

SFRS7

Papers
RefSeq ID
Protein change
DNA change
1–12 of 57 variants
2 papers
NM_001031684.3
p.L37F
c.111A>T
2 papers
NM_001031684.3
p.L37F
c.111A>C
2 papers
NM_001031684.3
p.P46L
c.137C>T
2 papers
NM_001031684.3
p.K70N
c.210G>T
1 paper
NM_001031684.3
p.M1R
c.2T>G
1 paper
NM_001031684.3
p.S2L
c.5C>T
1 paper
NM_001031684.3
p.S2S
c.6G>A
1 paper
NM_001031684.3
p.Y4C
c.11A>G
1 paper
NM_001031684.3
p.G9R
c.25G>A
1 paper
NM_001031684.3
p.E10Splc
c.29-114C>T
1 paper
NM_001031684.3
p.K12insFs
c.34_35ins4
1 paper
NM_001031684.3
p.N17Y
c.49A>T
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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."