Varaico: Literature-Extracted Genetic Variants

Gene:SCAF4
Variant:p.Q591R

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
2 papers
NM_020706.2
p.Q591R
c.1772A>G
Surrounding Variants
1 paper
NM_020706.2
p.N582_K583delFs
c.1746_1749del4
1 paper
NM_020706.2
p.N582fs
c.1744_1745fs
2 papers
NM_020706.2
p.W604*
c.1812G>A
1 paper
NM_020706.2
p.K606R
c.1817A>G
1 paper
NM_020706.2
p.D624delFs
c.1871delT
1 paper
NM_020706.2
p.K576R
c.1727A>G
1 paper
NM_020706.2
p.G566*
c.1696G>T
1 paper
NM_020706.2
p.R565Q
c.1694G>A
2 papers
NM_020706.2
p.R565*
c.1693C>T
2 papers
NM_020706.2
p.M550insFs
c.1649dupT
1 paper
NM_020706.2
p.A546_Y547ins7
c.1636_1640ins21
1 paper
NM_020706.2
p.P541A
c.1621C>G
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