Varaico: Literature-Extracted Genetic Variants

Gene:PHF5A
Variant:p.Y36F

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
2 papers
NM_032758.4
p.Y36F
c.107A>T
Surrounding Variants
19 papers
NM_032758.4
p.Y36C
c.107A>G
1 paper
NM_032758.4
p.Y36S
c.107A>C
1 paper
NM_032758.4
p.Y36H
c.106T>C
4 papers
NM_032758.4
p.R38C
c.112C>T
13 papers
NM_032758.4
p.C33S
c.97T>A
1 paper
NM_032758.4
p.C40S
c.118T>A
1 paper
NM_032758.4
p.C40S
c.119G>C
1 paper
NM_032758.4
p.T41insFs
c.122dupC
1 paper
NM_032758.4
p.L42Q
c.125T>A
1 paper
NM_032758.4
p.K29N
c.87G>T
1 paper
NM_032758.4
p.K29N
c.87G>C
1 paper
NM_032758.4
p.K29R
c.86A>G
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