Varaico: Literature-Extracted Genetic Variants

Gene:SUGP1
Variant:p.P301S

SUGP1

142 papers

RefSeq Summary

SF4 is a member of the SURP family of splicing factors.[supplied by OMIM, Sep 2003].

Pfam Domains

Surpaa 189–241UCSCSurp module
Surpaa 264–316UCSCSurp module
G-patchaa 562–607UCSCG-patch domain

Gene Aliases

HGNC Name

SURP and G-patch domain containing 1

HGNC Previous Symbol

SF4

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_172231.4
p.P301S
c.901C>T
Surrounding Variants
2 papers
NM_172231.4
p.P301L
c.902C>T
1 paper
NM_172231.4
p.L298P
c.893T>C
1 paper
NM_172231.4
p.R317W
c.949C>T
1 paper
NM_172231.4
p.R317_K318insFs
c.951_952ins4
1 paper
NM_172231.4
p.T328I
c.983C>T
1 paper
NM_172231.4
p.S356A
c.1066T>G
1 paper
NM_172231.4
p.A360V
c.1079C>T
1 paper
NM_172231.4
p.P361S
c.1081C>T
1 paper
NM_172231.4
p.P361T
c.1081C>A
1 paper
NM_172231.4
p.T362I
c.1085C>T
2 papers
NM_172231.4
p.P365S
c.1093C>T
1 paper
NM_172231.4
p.P365H
c.1094C>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."