Varaico: Literature-Extracted Genetic Variants

Gene:PHF5A
Variant:p.K103N

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
4 papers
NM_032758.4
p.K103N
c.309A>C
Surrounding Variants
4 papers
NM_032758.4
p.K103N
c.309A>T
2 papers
NM_032758.4
p.K103R
c.308A>G
1 paper
NM_032758.4
p.K103insFs
c.307_308insAA
1 paper
NM_032758.4
p.R102H
c.305G>A
1 paper
NM_032758.4
p.G106R
c.316G>C
1 paper
NM_032758.4
p.R110K
c.329G>A
1 paper
NM_032758.4
p.S93fs
c.277_278fs
1 paper
NM_032758.4
p.G92insFs
c.276dupG
1 paper
NM_032758.4
p.D81_R82Splc
c.243+1G>A
1 paper
NM_032758.4
p.D81E
c.243C>G
1 paper
NM_032758.4
p.D81E
c.243C>A
1 paper
NM_032758.4
p.K80R
c.239A>G
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