Varaico: Literature-Extracted Genetic Variants

Gene:PHF5A
Variant:p.C23W

PHF5A

93 papers

RefSeq Summary

This gene encodes a subunit of the splicing factor 3b protein complex. Splicing factor 3b, together with splicing factor 3a and a 12S RNA unit, forms the U2 small nuclear ribonucleoproteins complex (U...

Pfam Domains

PHF5aa 1–104UCSCPHF5-like protein

Gene Aliases

HGNC Name

PHD finger protein 5A

HGNC Alias Symbols

MGC1346; SF3b14b; INI; bK223H9.2; Rds3; SAP14b; SF3B7

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_032758.4
p.C23W
c.69T>G
Surrounding Variants
1 paper
NM_032758.4
p.C23*
c.69T>A
1 paper
NM_032758.4
p.E24*
c.70G>T
2 papers
NM_032758.4
p.C23S
c.68G>C
2 papers
NM_032758.4
p.C23S
c.67T>A
1 paper
NM_032758.4
p.C23_E24delFs
c.69_70delCA
1 paper
NM_032758.4
p.K25delFs
c.75delT
1 paper
NM_032758.4
p.A18G
c.53C>G
2 papers
NM_032758.4
p.A15V
c.44C>T
1 paper
NM_032758.4
p.H4R
c.11A>G
1 paper
NM_032758.4
p.A2T
c.4G>A
1 paper
NM_032758.4
p.M1T
c.2T>C
1 paper
NM_032758.4
p.K29R
c.86A>G
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."