Varaico: Literature-Extracted Genetic Variants

Gene:SCAF4
Variant:p.N172K

SCAF4

79 papers

RefSeq Summary

This gene likely encodes a member of the arginine/serine-rich splicing factor family. A similar protein in Rat appears to bind the large subunit of RNA polymerase II and provide a link between transcr...

Pfam Domains

CIDaa 5–131UCSCCID domain
RRM_1aa 510–576UCSCRNA recognition motif

Gene Aliases

HGNC Name

SR-related CTD associated factor 4

HGNC Previous Symbol

SFRS15

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_020706.2
p.N172K
c.516C>A
Surrounding Variants
1 paper
NM_020706.2
p.N172K
c.516C>G
2 papers
NM_020706.2
p.V174insFs
c.521dupT
2 papers
NM_020706.2
p.A176fs
c.526_527fs
1 paper
NM_020706.2
p.S182_S183insFs
c.546_547ins7
1 paper
NM_020706.2
p.S183fs
c.547_548fs
1 paper
NM_020706.2
p.D184fs
c.550_551fs
1 paper
NM_020706.2
p.D184_F186delFs
c.552_558del7
2 papers
NM_020706.2
p.Q191*
c.571C>T
2 papers
NM_020706.2
p.N151_E152delFs
c.453_456del4
1 paper
NM_020706.2
p.N151D
c.451A>G
1 paper
NM_020706.2
p.V144V
c.432A>T
1 paper
NM_020706.2
p.V144I
c.430G>A
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