Varaico: Literature-Extracted Genetic Variants

Gene:SRSF2
Variant:p.P7T

SRSF2

1,104 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 RNA recog...

Pfam Domains

RRM_1aa 16–86UCSCRNA recognition motif

Gene Aliases

HGNC Name

serine and arginine rich splicing factor 2

HGNC Previous Symbol

SFRS2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001195427.2
p.P7T
c.19C>A
Surrounding Variants
1 paper
NM_001195427.2
p.P7insFs
c.20dupC
1 paper
NM_001195427.2
p.P6R
c.17C>G
1 paper
NM_001195427.2
p.P6T
c.16C>A
1 paper
NM_001195427.2
p.P8fs
c.22_23fs
1 paper
NM_001195427.2
p.R5R
c.15C>G
2 papers
NM_001195427.2
p.R5L
c.14G>T
2 papers
NM_001195427.2
p.R5H
c.14G>A
2 papers
NM_001195427.2
p.S2_P8delFs
c.5_23del19
2 papers
NM_001195427.2
p.R5G
c.13C>G
1 paper
NM_001195427.2
p.G4A
c.11G>C
1 paper
NM_001195427.2
p.V10insFs
c.28_29insT
1 paper
NM_001195427.2
p.G4insFs
c.10_11insT
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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."