Varaico: Literature-Extracted Genetic Variants

Gene:SUGP1
Variant:p.A54V

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.A54V
c.161C>T
Surrounding Variants
1 paper
NM_172231.4
p.Q52*
c.154C>T
1 paper
NM_172231.4
p.Q58Fs
c.172delinsGCCCCCCCTCCACCGFs
1 paper
NM_172231.4
p.I32_Q35del4
c.94_104del12
2 papers
NM_172231.4
p.G26*
c.76G>T
1 paper
NM_172231.4
p.N15H
c.43A>C
1 paper
NM_172231.4
p.K13R
c.38A>G
1 paper
NM_172231.4
p.A11E
c.32C>A
1 paper
NM_172231.4
p.L3I
c.7C>A
1 paper
NM_172231.4
p.G87G
c.261T>G
1 paper
NM_172231.4
p.T103T
c.309A>T
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