Varaico: Literature-Extracted Genetic Variants

Gene:SUGP1
Variant:p.E240K

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.E240K
c.718G>A
Surrounding Variants
1 paper
NM_172231.4
p.A239V
c.716C>T
1 paper
NM_172231.4
p.V238M
c.712G>A
1 paper
NM_172231.4
p.E244Q
c.730G>C
1 paper
NM_172231.4
p.S248S
c.744G>T
1 paper
NM_172231.4
p.Q249fs
c.745_746fs
1 paper
NM_172231.4
p.R229W
c.685A>T
1 paper
NM_172231.4
p.S252A
c.754T>G
1 paper
NM_172231.4
p.D225G
c.674A>G
1 paper
NM_172231.4
p.Y214fs
c.640_641fs
1 paper
NM_172231.4
p.M211T
c.632T>C
1 paper
NM_172231.4
p.R189Q
c.566G>A
1 paper
NM_172231.4
p.S181L
c.542C>T
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