Varaico: Literature-Extracted Genetic Variants

Gene:PHF5A

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
1–12 of 53 variants
19 papers
NM_032758.4
p.Y36C
c.107A>G
13 papers
NM_032758.4
p.C33S
c.97T>A
4 papers
NM_032758.4
p.R38C
c.112C>T
4 papers
NM_032758.4
p.K103N
c.309A>T
4 papers
NM_032758.4
p.K103N
c.309A>C
3 papers
NM_032758.4
p.R57C
c.169C>T
2 papers
NM_032758.4
p.A15V
c.44C>T
2 papers
NM_032758.4
p.C23S
c.67T>A
2 papers
NM_032758.4
p.C23S
c.68G>C
2 papers
NM_032758.4
p.Y36F
c.107A>T
2 papers
NM_032758.4
p.Y54*
c.162C>G
2 papers
NM_032758.4
p.Y54*
c.162C>A
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."