Varaico: Literature-Extracted Genetic Variants

Gene:SRSF7
Variant:p.L18Q

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
Selected Variant
1 paper
NM_001031684.3
p.L18Q
c.53T>A
Surrounding Variants
1 paper
NM_001031684.3
p.N17Y
c.49A>T
1 paper
NM_001031684.3
p.T20N
c.59C>A
1 paper
NM_001031684.3
p.A22fs
c.64_65fs
1 paper
NM_001031684.3
p.G23S
c.67G>A
1 paper
NM_001031684.3
p.A22_G23delFs
c.64_67del4
1 paper
NM_001031684.3
p.K12insFs
c.34_35ins4
1 paper
NM_001031684.3
p.G25A
c.74G>C
1 paper
NM_001031684.3
p.S32G
c.94A>G
1 paper
NM_001031684.3
p.Y34C
c.101A>G
2 papers
NM_001031684.3
p.L37F
c.111A>T
2 papers
NM_001031684.3
p.L37F
c.111A>C
1 paper
NM_001031684.3
p.A43G
c.128C>G
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