Varaico: Literature-Extracted Genetic Variants

Gene:SRSF6
Variant:p.M1_V4delFs

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.M1_V4delFs
c.3_12del10
Surrounding Variants
1 paper
NM_006275.6
p.M1I
c.3G>A
1 paper
NM_006275.6
p.P2T
c.4C>A
1 paper
NM_006275.6
p.R3_N12del10
c.7_35del30
1 paper
NM_006275.6
p.I6T
c.17T>C
1 paper
NM_006275.6
p.F22S
c.65T>C
1 paper
NM_006275.6
p.G26G
c.78C>T
1 paper
NM_006275.6
p.D32H
c.94G>C
1 paper
NM_006275.6
p.N56K
c.168C>A
1 paper
NM_006275.6
p.N56K
c.168C>G
1 paper
NM_006275.6
p.R74P
c.221G>C
1 paper
NM_006275.6
p.R77C
c.229C>T
1 paper
NM_006275.6
p.S86Splc
c.256+1G>T
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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."