Varaico: Literature-Extracted Genetic Variants

Gene:SUGP1
Variant:p.K542fs

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
2 papers
NM_172231.4
p.K542fs
c.1624_1625fs
Surrounding Variants
1 paper
NM_172231.4
p.L544P
c.1631T>C
1 paper
NM_172231.4
p.K545N
c.1635G>T
1 paper
NM_172231.4
p.K545N
c.1635G>C
1 paper
NM_172231.4
p.L529L
c.1587G>T
1 paper
NM_172231.4
p.R520L
c.1559G>T
3 papers
NM_172231.4
p.G519V
c.1556G>T
1 paper
NM_172231.4
p.G519S
c.1555G>A
1 paper
NM_172231.4
p.T516P
c.1546A>C
4 papers
NM_172231.4
p.L515P
c.1544T>C
1 paper
NM_172231.4
p.T508T
c.1524C>A
1 paper
NM_172231.4
p.E492K
c.1474G>A
1 paper
NM_172231.4
p.E488K
c.1462G>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."