Varaico: Literature-Extracted Genetic Variants

Gene:SRSF6
Variant:p.R177T

SRSF6

105 papers

RefSeq Summary

The protein encoded by this gene is involved in mRNA splicing and may play a role in the determination of alternative splicing. The encoded nuclear protein belongs to the splicing factor SR family and...

Pfam Domains

RRM_1aa 4–66UCSCRNA recognition motif
RRM_1aa 112–177UCSCRNA recognition motif

Gene Aliases

HGNC Name

serine and arginine rich splicing factor 6

HGNC Previous Symbol

SFRS6

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_006275.6
p.R177T
c.530G>C
Surrounding Variants
1 paper
NM_006275.6
p.N172D
c.514A>G
1 paper
NM_006275.6
p.R184H
c.551G>A
1 paper
NM_006275.6
p.T185K
c.554C>A
1 paper
NM_006275.6
p.R189Q
c.566G>A
2 papers
NM_006275.6
p.S157insFs
c.469dupT
2 papers
NM_006275.6
p.R154C
c.460C>T
1 paper
NM_006275.6
p.E148Q
c.442G>C
1 paper
NM_006275.6
p.T146I
c.437C>T
1 paper
NM_006275.6
p.R145Q
c.434G>A
1 paper
NM_006275.6
p.A141T
c.421G>A
1 paper
NM_006275.6
p.D140fs
c.418_419fs
1 paper
NM_006275.6
p.G134D
c.401G>A
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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."