Varaico: Literature-Extracted Genetic Variants

Gene:SRSF2
Variant:p.D64_D67del4

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.D64_D67del4
c.190_200del12
Surrounding Variants
1 paper
NM_001195427.2
p.D67N
c.199G>A
1 paper
NM_001195427.2
p.K65_R66insFs
c.195_196insA
2 papers
NM_001195427.2
p.K65R
c.194A>G
1 paper
NM_001195427.2
p.A58_D64delFs
c.173_191del19
1 paper
NM_001195427.2
p.D73N
c.217G>A
2 papers
NM_001195427.2
p.D73G
c.218A>G
1 paper
NM_001195427.2
p.D73D
c.219T>C
3 papers
NM_001195427.2
p.H63D
c.187C>G
1 paper
NM_001195427.2
p.F62V
c.184T>G
1 paper
NM_001195427.2
p.R61delFs
c.182_183delGC
1 paper
NM_001195427.2
p.R61R
c.183C>T
1 paper
NM_001195427.2
p.M75L
c.223A>T
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."