Varaico: Literature-Extracted Genetic Variants

Gene:SCAF4
Variant:p.R488fs

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.R488fs
c.1462_1463fs
Surrounding Variants
1 paper
NM_020706.2
p.R488_E489delFs
c.1463_1466del4
1 paper
NM_020706.2
p.R484*
c.1450C>T
1 paper
NM_020706.2
p.Q497E
c.1489C>G
1 paper
NM_020706.2
p.S478S
c.1434T>C
1 paper
NM_020706.2
p.R477*
c.1429C>T
2 papers
NM_020706.2
p.R475*
c.1423C>T
1 paper
NM_020706.2
p.S504R
c.1510A>C
1 paper
NM_020706.2
p.S504R
c.1512T>G
1 paper
NM_020706.2
p.S504R
c.1512T>A
1 paper
NM_020706.2
p.R471*
c.1411C>T
1 paper
NM_020706.2
p.R460*
c.1378C>T
1 paper
NM_020706.2
p.R460G
c.1378C>G
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