Varaico: Literature-Extracted Genetic Variants

Gene:SUGP1

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
1–12 of 94 variants
4 papers
NM_172231.4
p.L515P
c.1544T>C
4 papers
NM_172231.4
p.G574A
c.1721G>C
4 papers
NM_172231.4
p.G582A
c.1745G>C
4 papers
NM_172231.4
p.R625T
c.1874G>C
3 papers
NM_172231.4
p.R290H
c.869G>A
3 papers
NM_172231.4
p.P301S
c.901C>T
3 papers
NM_172231.4
p.G519V
c.1556G>T
3 papers
NM_172231.4
p.P636L
c.1907C>T
2 papers
NM_172231.4
p.G26*
c.76G>T
2 papers
NM_172231.4
p.P301L
c.902C>T
2 papers
NM_172231.4
p.P365S
c.1093C>T
2 papers
NM_172231.4
p.K542fs
c.1624_1625fs
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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."