Varaico: Literature-Extracted Genetic Variants

Gene:SRSF7
Variant:p.D101E

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.D101E
c.303T>A
Surrounding Variants
1 paper
NM_001031684.3
p.D101E
c.303T>G
1 paper
NM_001031684.3
p.S123C
c.367A>T
1 paper
NM_001031684.3
p.R129Splc
c.386+1G>T
2 papers
NM_001031684.3
p.K70N
c.210G>T
1 paper
NM_001031684.3
p.V64_L67del4
c.190_200del12
1 paper
NM_001031684.3
p.A63V
c.188C>T
1 paper
NM_001031684.3
p.G48R
c.142G>C
1 paper
NM_001031684.3
p.G48R
c.142G>A
2 papers
NM_001031684.3
p.P46L
c.137C>T
1 paper
NM_001031684.3
p.N45T
c.134A>C
1 paper
NM_001031684.3
p.A43G
c.128C>G
2 papers
NM_001031684.3
p.L37F
c.111A>T
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