Varaico: Literature-Extracted Genetic Variants

Gene:SUGP1
Variant:p.P643A

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
1 paper
NM_172231.4
p.P643A
c.1927C>G
Surrounding Variants
2 papers
NM_172231.4
p.R642W
c.1924C>T
3 papers
NM_172231.4
p.P636L
c.1907C>T
4 papers
NM_172231.4
p.R625T
c.1874G>C
1 paper
NM_172231.4
p.R625G
c.1873A>G
1 paper
NM_172231.4
p.K614N
c.1842G>T
1 paper
NM_172231.4
p.K614N
c.1842G>C
1 paper
NM_172231.4
p.K614R
c.1841A>G
2 papers
NM_172231.4
p.R608W
c.1822C>T
1 paper
NM_172231.4
p.V599E
c.1796T>A
1 paper
NM_172231.4
p.V592M
c.1774G>A
4 papers
NM_172231.4
p.G582A
c.1745G>C
1 paper
NM_172231.4
p.G582fs
c.1744_1745fs
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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."