Varaico: Literature-Extracted Genetic Variants

Gene:SRSF2
Variant:p.D73G

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
2 papers
NM_001195427.2
p.D73G
c.218A>G
Surrounding Variants
1 paper
NM_001195427.2
p.D73D
c.219T>C
1 paper
NM_001195427.2
p.D73N
c.217G>A
1 paper
NM_001195427.2
p.M75L
c.223A>T
1 paper
NM_001195427.2
p.M75L
c.223A>C
1 paper
NM_001195427.2
p.D76H
c.226G>C
1 paper
NM_001195427.2
p.D76N
c.226G>A
1 paper
NM_001195427.2
p.A78insFs
c.232_233insAA
1 paper
NM_001195427.2
p.D64_D67del4
c.190_200del12
1 paper
NM_001195427.2
p.D67N
c.199G>A
1 paper
NM_001195427.2
p.L80M
c.238C>A
1 paper
NM_001195427.2
p.L80ins0
c.238_240dupCTG
1 paper
NM_001195427.2
p.K65_R66insFs
c.195_196insA
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